Canonical Allele Identifier: CA346598535

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533664G>C , CM000664.2:g.31533664G>C	GRCh38
NC_000002.11:g.31758734G>C , CM000664.1:g.31758734G>C	GRCh37
NC_000002.10:g.31612238G>C	NCBI36
NG_008365.1:g.52308C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000348.4:c.384C>G MANE Select	NP_000339.2:p.Tyr128Ter
ENST00000622030.2:c.384C>G MANE Select	ENSP00000477587.1:p.Tyr128Ter
NM_000348.3:c.384C>G	NP_000339.2:p.Tyr128Ter
ENST00000622030.1:c.384C>G	ENSP00000477587.1:p.Tyr128Ter
XM_011533068.1:c.384C>G	XP_011531370.1:p.Tyr128Ter
XM_011533069.1:c.162C>G	XP_011531371.1:p.Tyr54Ter
XM_011533069.2:c.162C>G	XP_011531371.1:p.Tyr54Ter
XM_011533070.1:c.129C>G	XP_011531372.1:p.Tyr43Ter
XM_011533071.1:c.129C>G	XP_011531373.1:p.Tyr43Ter
XM_011533072.1:c.129C>G	XP_011531374.1:p.Tyr43Ter
XM_011533072.2:c.129C>G	XP_011531374.1:p.Tyr43Ter