Canonical Allele Identifier: CA1242198325
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531418A= , CM000664.2:g.31531418A= GRCh38
NC_000002.11:g.31756488A= , CM000664.1:g.31756488A= GRCh37
NC_000002.10:g.31609992A= NCBI36
NG_008365.1:g.54554T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.500T= MANE Select ENSP00000477587.1:p.Leu167=
ENST00000622030.1:c.500T= ENSP00000477587.1:p.Leu167=
NM_000348.3:c.500T= NP_000339.2:p.Leu167=
XM_011533069.1:c.278T= XP_011531371.1:p.Leu93=
XM_011533070.1:c.245T= XP_011531372.1:p.Leu82=
XM_011533071.1:c.245T= XP_011531373.1:p.Leu82=
XM_011533072.1:c.245T= XP_011531374.1:p.Leu82=
XM_011533069.2:c.278T= XP_011531371.1:p.Leu93=
XM_011533072.2:c.245T= XP_011531374.1:p.Leu82=
NM_000348.4:c.500T= MANE Select NP_000339.2:p.Leu167=