Canonical Allele Identifier: CA374888553

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 2550198
• ClinVar RCV Id: RCV003273590
• MyVariant Identifiers: chr9:g.127262896C>T (hg19) ; chr9:g.124500617C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500617C>T , CM000671.2:g.124500617C>T	GRCh38
NC_000009.11:g.127262896C>T , CM000671.1:g.127262896C>T	GRCh37
NC_000009.10:g.126302717C>T	NCBI36
NG_008176.1:g.11804G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.343G>A MANE Select	ENSP00000362690.4:p.Ala115Thr
ENST00000373587.3:c.39+331G>A	ENSP00000362689.3:n.39+331G>A
ENST00000373588.8:c.343G>A	ENSP00000362690.4:p.Ala115Thr
ENST00000455734.1:c.343G>A	ENSP00000393245.1:p.Ala115Thr
ENST00000620110.4:c.343G>A	ENSP00000483309.1:p.Ala115Thr
NM_004959.4:c.343G>A	NP_004950.2:p.Ala115Thr
XM_005251871.2:c.343G>A	XP_005251928.1:p.Ala115Thr
XM_005251872.3:c.82G>A	XP_005251929.1:p.Ala28Thr
XM_011518455.1:c.343G>A	XP_011516757.1:p.Ala115Thr
XM_011518456.1:c.343G>A	XP_011516758.1:p.Ala115Thr
NM_004959.5:c.343G>A MANE Select	NP_004950.2:p.Ala115Thr