Canonical Allele Identifier: CA374889338

Gene: NR5A1

Linked Data

• dbSNP Id: rs1832462938
• gnomAD v3: 9-124500958-C-A
• gnomAD v4: 9-124500958-C-A
• MyVariant Identifiers: chr9:g.127263237C>A (hg19) ; chr9:g.124500958C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500958C>A , CM000671.2:g.124500958C>A	GRCh38
NC_000009.11:g.127263237C>A , CM000671.1:g.127263237C>A	GRCh37
NC_000009.10:g.126303058C>A	NCBI36
NG_008176.1:g.11463G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.245-243G>T MANE Select	ENSP00000362690.4:n.245-243G>T
ENST00000373587.3:c.29G>T	ENSP00000362689.3:p.Arg10Ile
ENST00000373588.8:c.245-243G>T	ENSP00000362690.4:n.245-243G>T
ENST00000455734.1:c.245-243G>T	ENSP00000393245.1:n.245-243G>T
ENST00000620110.4:c.245-243G>T	ENSP00000483309.1:n.245-243G>T
NM_004959.4:c.245-243G>T	NP_004950.2:n.245-243G>T
XM_005251871.2:c.245-243G>T	XP_005251928.1:n.245-243G>T
XM_005251872.3:c.-17-243G>T	XP_005251929.1:n.-17-243G>T
XM_011518455.1:c.245-243G>T	XP_011516757.1:n.245-243G>T
XM_011518456.1:c.245-243G>T	XP_011516758.1:n.245-243G>T
NM_004959.5:c.245-243G>T MANE Select	NP_004950.2:n.245-243G>T