Canonical Allele Identifier: CA2691610719

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124492984-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124492984G>T , CM000671.2:g.124492984G>T	GRCh38
NC_000009.11:g.127255263G>T , CM000671.1:g.127255263G>T	GRCh37
NC_000009.10:g.126295084G>T	NCBI36
NG_008176.1:g.19437C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.990+46C>A MANE Select	ENSP00000362690.4:n.990+46C>A
ENST00000373587.3:c.342+46C>A	ENSP00000362689.3:n.342+46C>A
ENST00000373588.8:c.990+46C>A	ENSP00000362690.4:n.990+46C>A
ENST00000620110.4:c.871-1756C>A	ENSP00000483309.1:n.871-1756C>A
NM_004959.4:c.990+46C>A	NP_004950.2:n.990+46C>A
XM_005251871.2:c.990+46C>A	XP_005251928.1:n.990+46C>A
XM_005251872.3:c.729+46C>A	XP_005251929.1:n.729+46C>A
XM_011518455.1:c.990+46C>A	XP_011516757.1:n.990+46C>A
XM_011518456.1:c.870+7106C>A	XP_011516758.1:n.870+7106C>A
NM_004959.5:c.990+46C>A MANE Select	NP_004950.2:n.990+46C>A