Canonical Allele Identifier: CA2749375065

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31531304A>G , CM000664.2:g.31531304A>G	GRCh38
NC_000002.11:g.31756374A>G , CM000664.1:g.31756374A>G	GRCh37
NC_000002.10:g.31609878A>G	NCBI36
NG_008365.1:g.54668T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.547+67T>C MANE Select	ENSP00000477587.1:n.547+67T>C
ENST00000622030.1:c.547+67T>C	ENSP00000477587.1:n.547+67T>C
NM_000348.3:c.547+67T>C	NP_000339.2:n.547+67T>C
XM_011533069.1:c.325+67T>C	XP_011531371.1:n.325+67T>C
XM_011533070.1:c.292+67T>C	XP_011531372.1:n.292+67T>C
XM_011533071.1:c.292+67T>C	XP_011531373.1:n.292+67T>C
XM_011533072.1:c.292+67T>C	XP_011531374.1:n.292+67T>C
XM_011533069.2:c.325+67T>C	XP_011531371.1:n.325+67T>C
XM_011533072.2:c.292+67T>C	XP_011531374.1:n.292+67T>C
NM_000348.4:c.547+67T>C MANE Select	NP_000339.2:n.547+67T>C