Canonical Allele Identifier: CA1878461876

Gene: NR5A1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124492982C= , CM000671.2:g.124492982C=	GRCh38
NC_000009.11:g.127255261C= , CM000671.1:g.127255261C=	GRCh37
NC_000009.10:g.126295082C=	NCBI36
NG_008176.1:g.19439G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.990+48G= MANE Select	ENSP00000362690.4:n.990+48G=
ENST00000373587.3:c.342+48G=	ENSP00000362689.3:n.342+48G=
ENST00000373588.8:c.990+48G=	ENSP00000362690.4:n.990+48G=
ENST00000620110.4:c.871-1754G=	ENSP00000483309.1:n.871-1754G=
NM_004959.4:c.990+48G=	NP_004950.2:n.990+48G=
XM_005251871.2:c.990+48G=	XP_005251928.1:n.990+48G=
XM_005251872.3:c.729+48G=	XP_005251929.1:n.729+48G=
XM_011518455.1:c.990+48G=	XP_011516757.1:n.990+48G=
XM_011518456.1:c.870+7108G=	XP_011516758.1:n.870+7108G=
NM_004959.5:c.990+48G= MANE Select	NP_004950.2:n.990+48G=