Canonical Allele Identifier: CA1242198243
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531242G= , CM000664.2:g.31531242G= GRCh38
NC_000002.11:g.31756312G= , CM000664.1:g.31756312G= GRCh37
NC_000002.10:g.31609816G= NCBI36
NG_008365.1:g.54730C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.547+129C= MANE Select ENSP00000477587.1:n.547+129C=
ENST00000622030.1:c.547+129C= ENSP00000477587.1:n.547+129C=
NM_000348.3:c.547+129C= NP_000339.2:n.547+129C=
XM_011533069.1:c.325+129C= XP_011531371.1:n.325+129C=
XM_011533070.1:c.292+129C= XP_011531372.1:n.292+129C=
XM_011533071.1:c.292+129C= XP_011531373.1:n.292+129C=
XM_011533072.1:c.292+129C= XP_011531374.1:n.292+129C=
XM_011533069.2:c.325+129C= XP_011531371.1:n.325+129C=
XM_011533072.2:c.292+129C= XP_011531374.1:n.292+129C=
NM_000348.4:c.547+129C= MANE Select NP_000339.2:n.547+129C=