Canonical Allele Identifier: CA590550864

Gene: NR5A1

Linked Data

• dbSNP Id: rs1253144751
• gnomAD v2: 9-127255273-G-A
• gnomAD v4: 9-124492994-G-A
• MyVariant Identifiers: chr9:g.127255273G>A (hg19) ; chr9:g.124492994G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124492994G>A , CM000671.2:g.124492994G>A	GRCh38
NC_000009.11:g.127255273G>A , CM000671.1:g.127255273G>A	GRCh37
NC_000009.10:g.126295094G>A	NCBI36
NG_008176.1:g.19427C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373588.9:c.990+36C>T MANE Select	ENSP00000362690.4:n.990+36C>T
ENST00000373587.3:c.342+36C>T	ENSP00000362689.3:n.342+36C>T
ENST00000373588.8:c.990+36C>T	ENSP00000362690.4:n.990+36C>T
ENST00000620110.4:c.871-1766C>T	ENSP00000483309.1:n.871-1766C>T
NM_004959.4:c.990+36C>T	NP_004950.2:n.990+36C>T
XM_005251871.2:c.990+36C>T	XP_005251928.1:n.990+36C>T
XM_005251872.3:c.729+36C>T	XP_005251929.1:n.729+36C>T
XM_011518455.1:c.990+36C>T	XP_011516757.1:n.990+36C>T
XM_011518456.1:c.870+7096C>T	XP_011516758.1:n.870+7096C>T
NM_004959.5:c.990+36C>T MANE Select	NP_004950.2:n.990+36C>T