Canonical Allele Identifier: CA380208775
Community Standard Title: NM_001352027.3(PHF21A):c.619C>T (p.Gln207Ter)
Gene: PHF21A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.45969898G>A , CM000673.2:g.45969898G>A GRCh38
NC_000011.9:g.45991449G>A , CM000673.1:g.45991449G>A GRCh37
NC_000011.8:g.45948025G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001352027.3:c.619C>T MANE Select NP_001338956.1:p.Gln207Ter
ENST00000676320.1:c.619C>T MANE Select ENSP00000502222.1:p.Gln207Ter
NM_001101802.1:c.616C>T NP_001095272.1:p.Gln206Ter
NM_001101802.2:c.616C>T NP_001095272.1:p.Gln206Ter
NM_001101802.3:c.616C>T NP_001095272.1:p.Gln206Ter
NM_001352025.1:c.619C>T NP_001338954.1:p.Gln207Ter
NM_001352025.2:c.619C>T NP_001338954.1:p.Gln207Ter
NM_001352025.3:c.619C>T NP_001338954.1:p.Gln207Ter
NM_001352026.1:c.619C>T NP_001338955.1:p.Gln207Ter
NM_001352026.2:c.619C>T NP_001338955.1:p.Gln207Ter
NM_001352026.3:c.619C>T NP_001338955.1:p.Gln207Ter
NM_001352027.1:c.619C>T NP_001338956.1:p.Gln207Ter
NM_001352027.2:c.619C>T NP_001338956.1:p.Gln207Ter
NM_001352028.1:c.619C>T NP_001338957.1:p.Gln207Ter
NM_001352029.1:c.619C>T NP_001338958.1:p.Gln207Ter
NM_001352030.1:c.616C>T NP_001338959.1:p.Gln206Ter
NM_001352030.2:c.616C>T NP_001338959.1:p.Gln206Ter
NM_001352030.3:c.616C>T NP_001338959.1:p.Gln206Ter
NM_001352031.1:c.616C>T NP_001338960.1:p.Gln206Ter
NM_001352031.2:c.616C>T NP_001338960.1:p.Gln206Ter
NM_001352031.3:c.616C>T NP_001338960.1:p.Gln206Ter
NM_001352032.1:c.616C>T NP_001338961.1:p.Gln206Ter
NM_001352032.2:c.616C>T NP_001338961.1:p.Gln206Ter
NM_001352032.3:c.616C>T NP_001338961.1:p.Gln206Ter
NM_016621.3:c.619C>T NP_057705.3:p.Gln207Ter
NM_016621.4:c.619C>T NP_057705.3:p.Gln207Ter
NM_016621.5:c.619C>T NP_057705.3:p.Gln207Ter
NR_147890.1:n.1243C>T
NR_147890.2:n.794C>T
NR_147890.3:n.1263C>T
NR_165446.1:n.1263C>T
ENST00000323180.10:c.619C>T ENSP00000323152.6:p.Gln207Ter
ENST00000418153.6:c.616C>T ENSP00000398824.2:p.Gln206Ter
ENST00000525676.6:c.616C>T ENSP00000431964.2:p.Gln206Ter
ENST00000527401.5:n.1472C>T
ENST00000530587.6:c.619C>T ENSP00000435984.2:p.Gln207Ter
ENST00000685188.1:n.931C>T
ENST00000688570.1:n.31C>T
ENST00000689695.1:n.931C>T
ENST00000690620.1:c.619C>T ENSP00000508589.1:p.Gln207Ter
ENST00000692878.1:n.1649C>T
ENST00000693049.1:c.*468C>T ENSP00000510131.1:n.*468C>T
XM_005252962.3:c.619C>T XP_005253019.1:p.Gln207Ter
XM_005252965.3:c.619C>T XP_005253022.1:p.Gln207Ter
XM_005252965.4:c.619C>T XP_005253022.1:p.Gln207Ter
XM_006718248.2:c.484C>T XP_006718311.1:p.Gln162Ter
XM_011520157.1:c.640C>T XP_011518459.1:p.Gln214Ter
XM_011520157.2:c.640C>T XP_011518459.1:p.Gln214Ter
XM_011520158.1:c.640C>T XP_011518460.1:p.Gln214Ter
XM_011520158.2:c.640C>T XP_011518460.1:p.Gln214Ter
XM_011520159.1:c.640C>T XP_011518461.1:p.Gln214Ter
XM_011520160.1:c.640C>T XP_011518462.1:p.Gln214Ter
XM_011520160.3:c.640C>T XP_011518462.1:p.Gln214Ter
XM_011520161.1:c.640C>T XP_011518463.1:p.Gln214Ter
XM_011520161.2:c.640C>T XP_011518463.1:p.Gln214Ter
XM_011520162.1:c.640C>T XP_011518464.1:p.Gln214Ter
XM_011520162.3:c.640C>T XP_011518464.1:p.Gln214Ter
XM_011520163.1:c.640C>T XP_011518465.1:p.Gln214Ter
XM_011520164.1:c.640C>T XP_011518466.1:p.Gln214Ter
XM_011520164.2:c.640C>T XP_011518466.1:p.Gln214Ter
XM_011520165.1:c.640C>T XP_011518467.1:p.Gln214Ter
XM_011520165.2:c.640C>T XP_011518467.1:p.Gln214Ter
XM_011520166.1:c.640C>T XP_011518468.1:p.Gln214Ter
XM_011520166.3:c.640C>T XP_011518468.1:p.Gln214Ter
XM_011520167.1:c.640C>T XP_011518469.1:p.Gln214Ter
XM_011520167.2:c.640C>T XP_011518469.1:p.Gln214Ter
XM_011520168.1:c.640C>T XP_011518470.1:p.Gln214Ter
XM_011520168.2:c.640C>T XP_011518470.1:p.Gln214Ter
XM_011520169.1:c.640C>T XP_011518471.1:p.Gln214Ter
XM_011520170.1:c.640C>T XP_011518472.1:p.Gln214Ter
XM_011520171.1:c.637C>T XP_011518473.1:p.Gln213Ter
XM_011520172.1:c.637C>T XP_011518474.1:p.Gln213Ter
XM_011520173.1:c.619C>T XP_011518475.1:p.Gln207Ter
XM_011520174.1:c.619C>T XP_011518476.1:p.Gln207Ter
XM_011520174.2:c.619C>T XP_011518476.1:p.Gln207Ter
XM_011520175.1:c.616C>T XP_011518477.1:p.Gln206Ter
XM_011520175.2:c.616C>T XP_011518477.1:p.Gln206Ter
XM_011520176.1:c.640C>T XP_011518478.1:p.Gln214Ter
XM_011520177.1:c.640C>T XP_011518479.1:p.Gln214Ter
XM_011520178.1:c.640C>T XP_011518480.1:p.Gln214Ter
XM_011520179.1:c.619C>T XP_011518481.1:p.Gln207Ter
XM_011520179.3:c.619C>T XP_011518481.1:p.Gln207Ter
XM_011520180.1:c.388C>T XP_011518482.1:p.Gln130Ter
XM_011520181.1:c.367C>T XP_011518483.1:p.Gln123Ter
XM_011520182.1:c.640C>T XP_011518484.1:p.Gln214Ter
XM_017017885.2:c.640C>T XP_016873374.1:p.Gln214Ter
XM_017017886.1:c.640C>T XP_016873375.1:p.Gln214Ter
XM_017017887.2:c.640C>T XP_016873376.1:p.Gln214Ter
XM_017017888.1:c.637C>T XP_016873377.1:p.Gln213Ter
XM_017017889.1:c.637C>T XP_016873378.1:p.Gln213Ter
XM_017017890.1:c.634C>T XP_016873379.1:p.Gln212Ter
XM_017017891.1:c.616C>T XP_016873380.1:p.Gln206Ter
XM_017017892.1:c.616C>T XP_016873381.1:p.Gln206Ter
XM_017017893.1:c.640C>T XP_016873382.1:p.Gln214Ter
XM_017017894.1:c.640C>T XP_016873383.1:p.Gln214Ter
XM_017017895.1:c.637C>T XP_016873384.1:p.Gln213Ter
XM_017017896.1:c.637C>T XP_016873385.1:p.Gln213Ter
XM_017017897.1:c.484C>T XP_016873386.1:p.Gln162Ter
XM_017017898.2:c.484C>T XP_016873387.1:p.Gln162Ter
XM_017017899.1:c.484C>T XP_016873388.1:p.Gln162Ter
XM_017017900.1:c.484C>T XP_016873389.1:p.Gln162Ter
XM_017017901.1:c.640C>T XP_016873390.1:p.Gln214Ter
XM_017017902.1:c.616C>T XP_016873391.1:p.Gln206Ter
XM_017017905.1:c.388C>T XP_016873394.1:p.Gln130Ter
XM_017017906.2:c.616C>T XP_016873395.1:p.Gln206Ter
XM_017017907.1:c.367C>T XP_016873396.1:p.Gln123Ter
XM_017017908.1:c.235C>T XP_016873397.1:p.Gln79Ter
XM_024448574.1:c.619C>T XP_024304342.1:p.Gln207Ter
XM_024448575.1:c.619C>T XP_024304343.1:p.Gln207Ter
XM_024448576.1:c.619C>T XP_024304344.1:p.Gln207Ter
XM_024448577.1:c.616C>T XP_024304345.1:p.Gln206Ter
XM_024448578.1:c.616C>T XP_024304346.1:p.Gln206Ter
XR_001747900.1:n.1145C>T
XR_001747902.2:n.919C>T
XR_930874.1:n.793C>T