Canonical Allele Identifier: CA10588831

Gene: NR5A1

Linked Data

• ClinVar Variation Id: 265792
• ClinVar RCV Id: RCV000256210 ; RCV000490553 ; RCV001820799 ; RCV001855015
• dbSNP Id: rs886039769
• MyVariant Identifiers: chr9:g.127262965G>A (hg19) ; chr9:g.124500686G>A (hg38)
• PubMed: PMID:27378692 ; PMID:27490115 ; PMID:27610946

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124500686G>A , CM000671.2:g.124500686G>A	GRCh38
NC_000009.11:g.127262965G>A , CM000671.1:g.127262965G>A	GRCh37
NC_000009.10:g.126302786G>A	NCBI36
NG_008176.1:g.11735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373588.9:c.274C>T MANE Select	ENSP00000362690.4:p.Arg92Trp
ENST00000373587.3:c.39+262C>T	ENSP00000362689.3:n.39+262C>T
ENST00000373588.8:c.274C>T	ENSP00000362690.4:p.Arg92Trp
ENST00000455734.1:c.274C>T	ENSP00000393245.1:p.Arg92Trp
ENST00000620110.4:c.274C>T	ENSP00000483309.1:p.Arg92Trp
NM_004959.4:c.274C>T	NP_004950.2:p.Arg92Trp
XM_005251871.2:c.274C>T	XP_005251928.1:p.Arg92Trp
XM_005251872.3:c.13C>T	XP_005251929.1:p.Arg5Trp
XM_011518455.1:c.274C>T	XP_011516757.1:p.Arg92Trp
XM_011518456.1:c.274C>T	XP_011516758.1:p.Arg92Trp
NM_004959.5:c.274C>T MANE Select	NP_004950.2:p.Arg92Trp