Canonical Allele Identifier: CA2658499103

Gene: SRD5A2

Linked Data

• gnomAD v4: 2-31533589-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.31533589G>A , CM000664.2:g.31533589G>A	GRCh38
NC_000002.11:g.31758659G>A , CM000664.1:g.31758659G>A	GRCh37
NC_000002.10:g.31612163G>A	NCBI36
NG_008365.1:g.52383C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000622030.2:c.445+14C>T MANE Select	ENSP00000477587.1:n.445+14C>T
ENST00000622030.1:c.445+14C>T	ENSP00000477587.1:n.445+14C>T
NM_000348.3:c.445+14C>T	NP_000339.2:n.445+14C>T
XM_011533068.1:c.445+14C>T	XP_011531370.1:n.445+14C>T
XM_011533069.1:c.223+14C>T	XP_011531371.1:n.223+14C>T
XM_011533070.1:c.190+14C>T	XP_011531372.1:n.190+14C>T
XM_011533071.1:c.190+14C>T	XP_011531373.1:n.190+14C>T
XM_011533072.1:c.190+14C>T	XP_011531374.1:n.190+14C>T
XM_011533069.2:c.223+14C>T	XP_011531371.1:n.223+14C>T
XM_011533072.2:c.190+14C>T	XP_011531374.1:n.190+14C>T
NM_000348.4:c.445+14C>T MANE Select	NP_000339.2:n.445+14C>T