Canonical Allele Identifier: CA346598347
Gene: SRD5A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531455A>T , CM000664.2:g.31531455A>T GRCh38
NC_000002.11:g.31756525A>T , CM000664.1:g.31756525A>T GRCh37
NC_000002.10:g.31610029A>T NCBI36
NG_008365.1:g.54517T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.463T>A MANE Select ENSP00000477587.1:p.Leu155Met
ENST00000622030.1:c.463T>A ENSP00000477587.1:p.Leu155Met
NM_000348.3:c.463T>A NP_000339.2:p.Leu155Met
XM_011533069.1:c.241T>A XP_011531371.1:p.Leu81Met
XM_011533070.1:c.208T>A XP_011531372.1:p.Leu70Met
XM_011533071.1:c.208T>A XP_011531373.1:p.Leu70Met
XM_011533072.1:c.208T>A XP_011531374.1:p.Leu70Met
XM_011533069.2:c.241T>A XP_011531371.1:p.Leu81Met
XM_011533072.2:c.208T>A XP_011531374.1:p.Leu70Met
NM_000348.4:c.463T>A MANE Select NP_000339.2:p.Leu155Met