Canonical Allele Identifier: CA346598345
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531454A>T , CM000664.2:g.31531454A>T GRCh38
NC_000002.11:g.31756524A>T , CM000664.1:g.31756524A>T GRCh37
NC_000002.10:g.31610028A>T NCBI36
NG_008365.1:g.54518T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.464T>A MANE Select ENSP00000477587.1:p.Leu155Ter
ENST00000622030.1:c.464T>A ENSP00000477587.1:p.Leu155Ter
NM_000348.3:c.464T>A NP_000339.2:p.Leu155Ter
XM_011533069.1:c.242T>A XP_011531371.1:p.Leu81Ter
XM_011533070.1:c.209T>A XP_011531372.1:p.Leu70Ter
XM_011533071.1:c.209T>A XP_011531373.1:p.Leu70Ter
XM_011533072.1:c.209T>A XP_011531374.1:p.Leu70Ter
XM_011533069.2:c.242T>A XP_011531371.1:p.Leu81Ter
XM_011533072.2:c.209T>A XP_011531374.1:p.Leu70Ter
NM_000348.4:c.464T>A MANE Select NP_000339.2:p.Leu155Ter