Canonical Allele Identifier: CA1242214605
Gene: SRD5A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31567433G= , CM000664.2:g.31567433G= GRCh38
NC_000002.11:g.31792503G= , CM000664.1:g.31792503G= GRCh37
NC_000002.10:g.31646007G= NCBI36
NG_008365.1:g.18539C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000622030.2:c.281+13187C= MANE Select ENSP00000477587.1:n.281+13187C=
ENST00000622030.1:c.281+13187C= ENSP00000477587.1:n.281+13187C=
NM_000348.3:c.281+13187C= NP_000339.2:n.281+13187C=
XM_011533068.1:c.281+13187C= XP_011531370.1:n.281+13187C=
XM_011533070.1:c.27-33667C= XP_011531372.1:n.27-33667C=
XM_011533071.1:c.27-33667C= XP_011531373.1:n.27-33667C=
XM_011533072.1:c.27-33667C= XP_011531374.1:n.27-33667C=
XM_011533072.2:c.27-33667C= XP_011531374.1:n.27-33667C=
NM_000348.4:c.281+13187C= MANE Select NP_000339.2:n.281+13187C=