Canonical Allele Identifier: CA374882277

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493082C>T , CM000671.2:g.124493082C>T	GRCh38
NC_000009.11:g.127255361C>T , CM000671.1:g.127255361C>T	GRCh37
NC_000009.10:g.126295182C>T	NCBI36
NG_008176.1:g.19339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.938G>A MANE Select	ENSP00000362690.4:p.Arg313His
ENST00000373587.3:c.290G>A	ENSP00000362689.3:p.Arg97His
ENST00000373588.8:c.938G>A	ENSP00000362690.4:p.Arg313His
ENST00000620110.4:c.871-1854G>A	ENSP00000483309.1:n.871-1854G>A
NM_004959.4:c.938G>A	NP_004950.2:p.Arg313His
XM_005251871.2:c.938G>A	XP_005251928.1:p.Arg313His
XM_005251872.3:c.677G>A	XP_005251929.1:p.Arg226His
XM_011518455.1:c.938G>A	XP_011516757.1:p.Arg313His
XM_011518456.1:c.870+7008G>A	XP_011516758.1:n.870+7008G>A
NM_004959.5:c.938G>A MANE Select	NP_004950.2:p.Arg313His