Canonical Allele Identifier: CA2691610732

Gene: NR5A1

Linked Data

• gnomAD v4: 9-124492992-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124492992A>G , CM000671.2:g.124492992A>G	GRCh38
NC_000009.11:g.127255271A>G , CM000671.1:g.127255271A>G	GRCh37
NC_000009.10:g.126295092A>G	NCBI36
NG_008176.1:g.19429T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.990+38T>C MANE Select	ENSP00000362690.4:n.990+38T>C
ENST00000373587.3:c.342+38T>C	ENSP00000362689.3:n.342+38T>C
ENST00000373588.8:c.990+38T>C	ENSP00000362690.4:n.990+38T>C
ENST00000620110.4:c.871-1764T>C	ENSP00000483309.1:n.871-1764T>C
NM_004959.4:c.990+38T>C	NP_004950.2:n.990+38T>C
XM_005251871.2:c.990+38T>C	XP_005251928.1:n.990+38T>C
XM_005251872.3:c.729+38T>C	XP_005251929.1:n.729+38T>C
XM_011518455.1:c.990+38T>C	XP_011516757.1:n.990+38T>C
XM_011518456.1:c.870+7098T>C	XP_011516758.1:n.870+7098T>C
NM_004959.5:c.990+38T>C MANE Select	NP_004950.2:n.990+38T>C