Canonical Allele Identifier: CA5235463

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 656582
• ClinVar RCV Id: RCV001816886 ; RCV002235033
• dbSNP Id: rs761496130
• ExAC: 9:127262779 C / T
• gnomAD v2: 9-127262779-C-T
• gnomAD v3: 9-124500500-C-T
• gnomAD v4: 9-124500500-C-T
• MyVariant Identifiers: chr9:g.127262779C>T (hg19) ; chr9:g.124500500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500500C>T , CM000671.2:g.124500500C>T	GRCh38
NC_000009.11:g.127262779C>T , CM000671.1:g.127262779C>T	GRCh37
NC_000009.10:g.126302600C>T	NCBI36
NG_008176.1:g.11921G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.460G>A MANE Select	ENSP00000362690.4:p.Ala154Thr
ENST00000373587.3:c.40-228G>A	ENSP00000362689.3:n.40-228G>A
ENST00000373588.8:c.460G>A	ENSP00000362690.4:p.Ala154Thr
ENST00000455734.1:c.460G>A	ENSP00000393245.1:p.Ala154Thr
ENST00000620110.4:c.460G>A	ENSP00000483309.1:p.Ala154Thr
NM_004959.4:c.460G>A	NP_004950.2:p.Ala154Thr
XM_005251871.2:c.460G>A	XP_005251928.1:p.Ala154Thr
XM_005251872.3:c.199G>A	XP_005251929.1:p.Ala67Thr
XM_011518455.1:c.460G>A	XP_011516757.1:p.Ala154Thr
XM_011518456.1:c.460G>A	XP_011516758.1:p.Ala154Thr
NM_004959.5:c.460G>A MANE Select	NP_004950.2:p.Ala154Thr