Canonical Allele Identifier: CA13405330
Gene: PHRF1 HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.611919C>G , CM000673.2:g.611919C>G GRCh38
NC_000011.9:g.611919C>G , CM000673.1:g.611919C>G GRCh37
NC_000011.8:g.601919C>G NCBI36
NG_029106.1:g.9081G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264555.10:c.*142C>G MANE Select ENSP00000264555.5:n.*142C>G
ENST00000416188.3:c.*142C>G ENSP00000410626.2:n.*142C>G
ENST00000264555.9:c.*142C>G ENSP00000264555.5:n.*142C>G
ENST00000413872.6:c.*142C>G ENSP00000388589.2:n.*142C>G
ENST00000416188.2:c.*142C>G ENSP00000410626.2:n.*142C>G
ENST00000533464.5:c.*142C>G ENSP00000431870.1:n.*142C>G
ENST00000534320.5:c.*441C>G ENSP00000435360.1:n.*441C>G
NM_001286581.1:c.*142C>G NP_001273510.1:n.*142C>G
NM_001286582.1:c.*142C>G NP_001273511.1:n.*142C>G
NM_001286583.1:c.*142C>G NP_001273512.1:n.*142C>G
NM_020901.3:c.*142C>G NP_065952.2:n.*142C>G
XM_005253025.3:c.*142C>G XP_005253082.1:n.*142C>G
XM_005253027.2:c.*142C>G XP_005253084.1:n.*142C>G
XM_011520236.1:c.*142C>G XP_011518538.1:n.*142C>G
XM_011520237.1:c.*142C>G XP_011518539.1:n.*142C>G
XM_005253025.5:c.*142C>G XP_005253082.1:n.*142C>G
XM_005253027.3:c.*142C>G XP_005253084.1:n.*142C>G
XM_011520236.3:c.*142C>G XP_011518538.1:n.*142C>G
XM_011520237.3:c.*142C>G XP_011518539.1:n.*142C>G
NM_001286581.2:c.*142C>G MANE Select NP_001273510.1:n.*142C>G
NM_001286582.2:c.*142C>G NP_001273511.1:n.*142C>G
NM_001286583.2:c.*142C>G NP_001273512.1:n.*142C>G
NM_020901.4:c.*142C>G NP_065952.2:n.*142C>G