Canonical Allele Identifier: CA5235328

Gene: NR5A1

Linked Data

• dbSNP Id: rs777525840
• ExAC: 9:127255278 G / A
• gnomAD v2: 9-127255278-G-A
• gnomAD v4: 9-124492999-G-A
• MyVariant Identifiers: chr9:g.127255278G>A (hg19) ; chr9:g.124492999G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124492999G>A , CM000671.2:g.124492999G>A	GRCh38
NC_000009.11:g.127255278G>A , CM000671.1:g.127255278G>A	GRCh37
NC_000009.10:g.126295099G>A	NCBI36
NG_008176.1:g.19422C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.990+31C>T MANE Select	ENSP00000362690.4:n.990+31C>T
ENST00000373587.3:c.342+31C>T	ENSP00000362689.3:n.342+31C>T
ENST00000373588.8:c.990+31C>T	ENSP00000362690.4:n.990+31C>T
ENST00000620110.4:c.871-1771C>T	ENSP00000483309.1:n.871-1771C>T
NM_004959.4:c.990+31C>T	NP_004950.2:n.990+31C>T
XM_005251871.2:c.990+31C>T	XP_005251928.1:n.990+31C>T
XM_005251872.3:c.729+31C>T	XP_005251929.1:n.729+31C>T
XM_011518455.1:c.990+31C>T	XP_011516757.1:n.990+31C>T
XM_011518456.1:c.870+7091C>T	XP_011516758.1:n.870+7091C>T
NM_004959.5:c.990+31C>T MANE Select	NP_004950.2:n.990+31C>T