Canonical Allele Identifier: CA122711
Gene: NR5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12796
ClinVar RCV Id: RCV000013640 RCV000490544 RCV000490549
dbSNP Id: rs104894119
gnomAD v4: 9-124500685-C-T
MyVariant Identifiers: chr9:g.127262964C>T (hg19) chr9:g.124500685C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500685C>T , CM000671.2:g.124500685C>T GRCh38
NC_000009.11:g.127262964C>T , CM000671.1:g.127262964C>T GRCh37
NC_000009.10:g.126302785C>T NCBI36
NG_008176.1:g.11736G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373588.9:c.275G>A MANE Select ENSP00000362690.4:p.Arg92Gln
ENST00000373587.3:c.39+263G>A ENSP00000362689.3:n.39+263G>A
ENST00000373588.8:c.275G>A ENSP00000362690.4:p.Arg92Gln
ENST00000455734.1:c.275G>A ENSP00000393245.1:p.Arg92Gln
ENST00000620110.4:c.275G>A ENSP00000483309.1:p.Arg92Gln
NM_004959.4:c.275G>A NP_004950.2:p.Arg92Gln
XM_005251871.2:c.275G>A XP_005251928.1:p.Arg92Gln
XM_005251872.3:c.14G>A XP_005251929.1:p.Arg5Gln
XM_011518455.1:c.275G>A XP_011516757.1:p.Arg92Gln
XM_011518456.1:c.275G>A XP_011516758.1:p.Arg92Gln
NM_004959.5:c.275G>A MANE Select NP_004950.2:p.Arg92Gln
Search 100 bp 5'
Search 100 bp 3'