Canonical Allele Identifier: CA1878461908

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493036C= , CM000671.2:g.124493036C=	GRCh38
NC_000009.11:g.127255315C= , CM000671.1:g.127255315C=	GRCh37
NC_000009.10:g.126295136C=	NCBI36
NG_008176.1:g.19385G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.984G= MANE Select	ENSP00000362690.4:p.Gly328=
ENST00000373587.3:c.336G=	ENSP00000362689.3:p.Gly112=
ENST00000373588.8:c.984G=	ENSP00000362690.4:p.Gly328=
ENST00000620110.4:c.871-1808G=	ENSP00000483309.1:n.871-1808G=
NM_004959.4:c.984G=	NP_004950.2:p.Gly328=
XM_005251871.2:c.984G=	XP_005251928.1:p.Gly328=
XM_005251872.3:c.723G=	XP_005251929.1:p.Gly241=
XM_011518455.1:c.984G=	XP_011516757.1:p.Gly328=
XM_011518456.1:c.870+7054G=	XP_011516758.1:n.870+7054G=
NM_004959.5:c.984G= MANE Select	NP_004950.2:p.Gly328=