Canonical Allele Identifier: CA1878461922

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124493083G= , CM000671.2:g.124493083G=	GRCh38
NC_000009.11:g.127255362G= , CM000671.1:g.127255362G=	GRCh37
NC_000009.10:g.126295183G=	NCBI36
NG_008176.1:g.19338C=

Transcript Alleles

HGVS	Amino-acid Change
NM_004959.5:c.937C= MANE Select	NP_004950.2:p.Arg313=
ENST00000373588.9:c.937C= MANE Select	ENSP00000362690.4:p.Arg313=
NM_004959.4:c.937C=	NP_004950.2:p.Arg313=
ENST00000373587.3:c.289C=	ENSP00000362689.3:p.Arg97=
ENST00000373588.8:c.937C=	ENSP00000362690.4:p.Arg313=
ENST00000620110.4:c.871-1855C=	ENSP00000483309.1:n.871-1855C=
XM_005251871.2:c.937C=	XP_005251928.1:p.Arg313=
XM_005251872.3:c.676C=	XP_005251929.1:p.Arg226=
XM_011518455.1:c.937C=	XP_011516757.1:p.Arg313=
XM_011518456.1:c.870+7007C=	XP_011516758.1:n.870+7007C=