Canonical Allele Identifier: CA1242197367
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529314G= , CM000664.2:g.31529314G= GRCh38
NC_000002.11:g.31754384G= , CM000664.1:g.31754384G= GRCh37
NC_000002.10:g.31607888G= NCBI36
NG_008365.1:g.56658C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.691C= MANE Select ENSP00000477587.1:p.His231=
ENST00000622030.1:c.691C= ENSP00000477587.1:p.His231=
NM_000348.3:c.691C= NP_000339.2:p.His231=
XM_011533069.1:c.469C= XP_011531371.1:p.His157=
XM_011533070.1:c.436C= XP_011531372.1:p.His146=
XM_011533071.1:c.436C= XP_011531373.1:p.His146=
XM_011533072.1:c.436C= XP_011531374.1:p.His146=
XM_011533069.2:c.469C= XP_011531371.1:p.His157=
XM_011533072.2:c.436C= XP_011531374.1:p.His146=
NM_000348.4:c.691C= MANE Select NP_000339.2:p.His231=