Canonical Allele Identifier: CA16618733
Gene: NR5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 420085
ClinVar RCV Id: RCV000487101
dbSNP Id: rs1064794281
MyVariant Identifiers: chr9:g.127262404A>T (hg19) chr9:g.124500125A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500125A>T , CM000671.2:g.124500125A>T GRCh38
NC_000009.11:g.127262404A>T , CM000671.1:g.127262404A>T GRCh37
NC_000009.10:g.126302225A>T NCBI36
NG_008176.1:g.12296T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373588.9:c.835T>A MANE Select ENSP00000362690.4:p.Trp279Arg
ENST00000373587.3:c.187T>A ENSP00000362689.3:p.Trp63Arg
ENST00000373588.8:c.835T>A ENSP00000362690.4:p.Trp279Arg
ENST00000620110.4:c.835T>A ENSP00000483309.1:p.Trp279Arg
NM_004959.4:c.835T>A NP_004950.2:p.Trp279Arg
XM_005251871.2:c.835T>A XP_005251928.1:p.Trp279Arg
XM_005251872.3:c.574T>A XP_005251929.1:p.Trp192Arg
XM_011518455.1:c.835T>A XP_011516757.1:p.Trp279Arg
XM_011518456.1:c.835T>A XP_011516758.1:p.Trp279Arg
NM_004959.5:c.835T>A MANE Select NP_004950.2:p.Trp279Arg
Search 100 bp 5'
Search 100 bp 3'