Canonical Allele Identifier: CA346597824

Gene: SRD5A2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31526260A>G , CM000664.2:g.31526260A>G	GRCh38
NC_000002.11:g.31751330A>G , CM000664.1:g.31751330A>G	GRCh37
NC_000002.10:g.31604834A>G	NCBI36
NG_008365.1:g.59712T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.701T>C MANE Select	ENSP00000477587.1:p.Phe234Ser
ENST00000622030.1:c.701T>C	ENSP00000477587.1:p.Phe234Ser
NM_000348.3:c.701T>C	NP_000339.2:p.Phe234Ser
XM_011533069.1:c.479T>C	XP_011531371.1:p.Phe160Ser
XM_011533070.1:c.446T>C	XP_011531372.1:p.Phe149Ser
XM_011533071.1:c.446T>C	XP_011531373.1:p.Phe149Ser
XM_011533072.1:c.446T>C	XP_011531374.1:p.Phe149Ser
XM_011533069.2:c.479T>C	XP_011531371.1:p.Phe160Ser
XM_011533072.2:c.446T>C	XP_011531374.1:p.Phe149Ser
NM_000348.4:c.701T>C MANE Select	NP_000339.2:p.Phe234Ser