Canonical Allele Identifier: CA2749375804

Gene: SRD5A2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31567577A>T , CM000664.2:g.31567577A>T	GRCh38
NC_000002.11:g.31792647A>T , CM000664.1:g.31792647A>T	GRCh37
NC_000002.10:g.31646151A>T	NCBI36
NG_008365.1:g.18395T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622030.2:c.281+13043T>A MANE Select	ENSP00000477587.1:n.281+13043T>A
ENST00000622030.1:c.281+13043T>A	ENSP00000477587.1:n.281+13043T>A
NM_000348.3:c.281+13043T>A	NP_000339.2:n.281+13043T>A
XM_011533068.1:c.281+13043T>A	XP_011531370.1:n.281+13043T>A
XM_011533070.1:c.27-33811T>A	XP_011531372.1:n.27-33811T>A
XM_011533071.1:c.27-33811T>A	XP_011531373.1:n.27-33811T>A
XM_011533072.1:c.27-33811T>A	XP_011531374.1:n.27-33811T>A
XM_011533072.2:c.27-33811T>A	XP_011531374.1:n.27-33811T>A
NM_000348.4:c.281+13043T>A MANE Select	NP_000339.2:n.281+13043T>A