Canonical Allele Identifier: CA1599955

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533690T>G , CM000664.2:g.31533690T>G	GRCh38
NC_000002.11:g.31758760T>G , CM000664.1:g.31758760T>G	GRCh37
NC_000002.10:g.31612264T>G	NCBI36
NG_008365.1:g.52282A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000348.4:c.358A>C MANE Select	NP_000339.2:p.Thr120Pro
ENST00000622030.2:c.358A>C MANE Select	ENSP00000477587.1:p.Thr120Pro
NM_000348.3:c.358A>C	NP_000339.2:p.Thr120Pro
ENST00000622030.1:c.358A>C	ENSP00000477587.1:p.Thr120Pro
XM_011533068.1:c.358A>C	XP_011531370.1:p.Thr120Pro
XM_011533069.1:c.136A>C	XP_011531371.1:p.Thr46Pro
XM_011533069.2:c.136A>C	XP_011531371.1:p.Thr46Pro
XM_011533070.1:c.103A>C	XP_011531372.1:p.Thr35Pro
XM_011533071.1:c.103A>C	XP_011531373.1:p.Thr35Pro
XM_011533072.1:c.103A>C	XP_011531374.1:p.Thr35Pro
XM_011533072.2:c.103A>C	XP_011531374.1:p.Thr35Pro