Canonical Allele Identifier: CA5235340

Gene: NR5A1

Linked Data

• dbSNP Id: rs141555967
• ExAC: 9:127255318 G / A
• gnomAD v2: 9-127255318-G-A
• gnomAD v3: 9-124493039-G-A
• gnomAD v4: 9-124493039-G-A
• MyVariant Identifiers: chr9:g.127255318G>A (hg19) ; chr9:g.124493039G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493039G>A , CM000671.2:g.124493039G>A	GRCh38
NC_000009.11:g.127255318G>A , CM000671.1:g.127255318G>A	GRCh37
NC_000009.10:g.126295139G>A	NCBI36
NG_008176.1:g.19382C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.981C>T MANE Select	ENSP00000362690.4:p.Thr327=
ENST00000373587.3:c.333C>T	ENSP00000362689.3:p.Thr111=
ENST00000373588.8:c.981C>T	ENSP00000362690.4:p.Thr327=
ENST00000620110.4:c.871-1811C>T	ENSP00000483309.1:n.871-1811C>T
NM_004959.4:c.981C>T	NP_004950.2:p.Thr327=
XM_005251871.2:c.981C>T	XP_005251928.1:p.Thr327=
XM_005251872.3:c.720C>T	XP_005251929.1:p.Thr240=
XM_011518455.1:c.981C>T	XP_011516757.1:p.Thr327=
XM_011518456.1:c.870+7051C>T	XP_011516758.1:n.870+7051C>T
NM_004959.5:c.981C>T MANE Select	NP_004950.2:p.Thr327=