Canonical Allele Identifier: CA3060977
Community Standard Title: NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter)
Gene: PRDM5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.120710387G>T , CM000666.2:g.120710387G>T GRCh38
NC_000004.11:g.121631542G>T , CM000666.1:g.121631542G>T GRCh37
NC_000004.10:g.121850992G>T NCBI36
NG_031862.2:g.217472C>A

Transcript Alleles

HGVS Amino-acid Change
NM_018699.4:c.1650C>A MANE Select NP_061169.2:p.Cys550Ter
ENST00000264808.8:c.1650C>A MANE Select ENSP00000264808.3:p.Cys550Ter
NM_001300823.1:c.1557C>A NP_001287752.1:p.Cys519Ter
NM_001300823.2:c.1557C>A NP_001287752.1:p.Cys519Ter
NM_001300824.1:c.1471C>A NP_001287753.1:p.Gln491Lys
NM_001300824.2:c.1471C>A NP_001287753.1:p.Gln491Lys
NM_001379104.1:c.1683C>A NP_001366033.1:p.Cys561Ter
NM_001379106.1:c.1531-15112C>A NP_001366035.1:n.1531-15112C>A
NM_018699.3:c.1650C>A NP_061169.2:p.Cys550Ter
ENST00000264808.7:c.1650C>A ENSP00000264808.3:p.Cys550Ter
ENST00000428209.6:c.1557C>A ENSP00000404832.2:p.Cys519Ter
ENST00000505484.5:n.2153C>A
ENST00000506065.1:n.500C>A
ENST00000513741.1:n.25C>A
ENST00000515109.5:c.1471C>A ENSP00000422309.1:p.Gln491Lys
XM_011531562.1:c.1683C>A XP_011529864.1:p.Cys561Ter
XM_011531562.2:c.1683C>A XP_011529864.1:p.Cys561Ter
XM_011531563.1:c.1590C>A XP_011529865.1:p.Cys530Ter
XM_011531563.2:c.1590C>A XP_011529865.1:p.Cys530Ter
XM_011531564.1:c.1657-15112C>A XP_011529866.1:n.1657-15112C>A
XM_011531564.2:c.1657-15112C>A XP_011529866.1:n.1657-15112C>A
XM_011531565.1:c.1683C>A XP_011529867.1:p.Cys561Ter
XM_011531565.2:c.1683C>A XP_011529867.1:p.Cys561Ter
XM_011531566.1:c.1683C>A XP_011529868.1:p.Cys561Ter
XM_011531566.3:c.1683C>A XP_011529868.1:p.Cys561Ter
XM_011531567.1:c.1597C>A XP_011529869.1:p.Gln533Lys
XM_011531567.2:c.1597C>A XP_011529869.1:p.Gln533Lys
XM_011531568.1:c.1597C>A XP_011529870.1:p.Gln533Lys
XM_011531568.2:c.1597C>A XP_011529870.1:p.Gln533Lys
XM_011531569.1:c.1597C>A XP_011529871.1:p.Gln533Lys
XM_011531569.3:c.1597C>A XP_011529871.1:p.Gln533Lys
XM_011531570.1:c.969C>A XP_011529872.1:p.Cys323Ter
XM_011531570.3:c.969C>A XP_011529872.1:p.Cys323Ter
XM_017007668.2:c.1605C>A XP_016863157.1:p.Cys535Ter
XM_017007669.1:c.1564C>A XP_016863158.1:p.Gln522Lys
XM_017007670.1:c.1564C>A XP_016863159.1:p.Gln522Lys
XM_017007671.1:c.708C>A XP_016863160.1:p.Cys236Ter
XM_024453879.1:c.936C>A XP_024309647.1:p.Cys312Ter
XR_938677.1:n.2097C>A
XR_938677.3:n.2097C>A