Canonical Allele Identifier: CA1242197431
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31529451A= , CM000664.2:g.31529451A= GRCh38
NC_000002.11:g.31754521A= , CM000664.1:g.31754521A= GRCh37
NC_000002.10:g.31608025A= NCBI36
NG_008365.1:g.56521T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.554T= MANE Select ENSP00000477587.1:p.Leu185=
ENST00000622030.1:c.554T= ENSP00000477587.1:p.Leu185=
NM_000348.3:c.554T= NP_000339.2:p.Leu185=
XM_011533069.1:c.332T= XP_011531371.1:p.Leu111=
XM_011533070.1:c.299T= XP_011531372.1:p.Leu100=
XM_011533071.1:c.299T= XP_011531373.1:p.Leu100=
XM_011533072.1:c.299T= XP_011531374.1:p.Leu100=
XM_011533069.2:c.332T= XP_011531371.1:p.Leu111=
XM_011533072.2:c.299T= XP_011531374.1:p.Leu100=
NM_000348.4:c.554T= MANE Select NP_000339.2:p.Leu185=