Canonical Allele Identifier: CA1599917

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531405C>G , CM000664.2:g.31531405C>G	GRCh38
NC_000002.11:g.31756475C>G , CM000664.1:g.31756475C>G	GRCh37
NC_000002.10:g.31609979C>G	NCBI36
NG_008365.1:g.54567G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000348.4:c.513G>C MANE Select	NP_000339.2:p.Arg171Ser
ENST00000622030.2:c.513G>C MANE Select	ENSP00000477587.1:p.Arg171Ser
NM_000348.3:c.513G>C	NP_000339.2:p.Arg171Ser
ENST00000622030.1:c.513G>C	ENSP00000477587.1:p.Arg171Ser
XM_011533069.1:c.291G>C	XP_011531371.1:p.Arg97Ser
XM_011533069.2:c.291G>C	XP_011531371.1:p.Arg97Ser
XM_011533070.1:c.258G>C	XP_011531372.1:p.Arg86Ser
XM_011533071.1:c.258G>C	XP_011531373.1:p.Arg86Ser
XM_011533072.1:c.258G>C	XP_011531374.1:p.Arg86Ser
XM_011533072.2:c.258G>C	XP_011531374.1:p.Arg86Ser