Canonical Allele Identifier: CA374886737

Gene: NR5A1

Linked Data

• dbSNP Id: rs1832448603
• gnomAD v4: 9-124500386-C-T
• MyVariant Identifiers: chr9:g.127262665C>T (hg19) ; chr9:g.124500386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500386C>T , CM000671.2:g.124500386C>T	GRCh38
NC_000009.11:g.127262665C>T , CM000671.1:g.127262665C>T	GRCh37
NC_000009.10:g.126302486C>T	NCBI36
NG_008176.1:g.12035G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.574G>A MANE Select	ENSP00000362690.4:p.Ala192Thr
ENST00000373587.3:c.40-114G>A	ENSP00000362689.3:n.40-114G>A
ENST00000373588.8:c.574G>A	ENSP00000362690.4:p.Ala192Thr
ENST00000620110.4:c.574G>A	ENSP00000483309.1:p.Ala192Thr
NM_004959.4:c.574G>A	NP_004950.2:p.Ala192Thr
XM_005251871.2:c.574G>A	XP_005251928.1:p.Ala192Thr
XM_005251872.3:c.313G>A	XP_005251929.1:p.Ala105Thr
XM_011518455.1:c.574G>A	XP_011516757.1:p.Ala192Thr
XM_011518456.1:c.574G>A	XP_011516758.1:p.Ala192Thr
NM_004959.5:c.574G>A MANE Select	NP_004950.2:p.Ala192Thr