Canonical Allele Identifier: CA5235320

Gene: NR5A1

Linked Data

• dbSNP Id: rs750819627
• ExAC: 9:127255264 C / T
• gnomAD v2: 9-127255264-C-T
• gnomAD v3: 9-124492985-C-T
• gnomAD v4: 9-124492985-C-T
• MyVariant Identifiers: chr9:g.127255264C>T (hg19) ; chr9:g.124492985C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124492985C>T , CM000671.2:g.124492985C>T	GRCh38
NC_000009.11:g.127255264C>T , CM000671.1:g.127255264C>T	GRCh37
NC_000009.10:g.126295085C>T	NCBI36
NG_008176.1:g.19436G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.990+45G>A MANE Select	ENSP00000362690.4:n.990+45G>A
ENST00000373587.3:c.342+45G>A	ENSP00000362689.3:n.342+45G>A
ENST00000373588.8:c.990+45G>A	ENSP00000362690.4:n.990+45G>A
ENST00000620110.4:c.871-1757G>A	ENSP00000483309.1:n.871-1757G>A
NM_004959.4:c.990+45G>A	NP_004950.2:n.990+45G>A
XM_005251871.2:c.990+45G>A	XP_005251928.1:n.990+45G>A
XM_005251872.3:c.729+45G>A	XP_005251929.1:n.729+45G>A
XM_011518455.1:c.990+45G>A	XP_011516757.1:n.990+45G>A
XM_011518456.1:c.870+7105G>A	XP_011516758.1:n.870+7105G>A
NM_004959.5:c.990+45G>A MANE Select	NP_004950.2:n.990+45G>A