Canonical Allele Identifier: CA16042654
Gene: NR5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372437
ClinVar RCV Id: RCV000413900 RCV000504282 RCV001662366 RCV002230747
dbSNP Id: rs1057517779
gnomAD v4: 9-124493083-G-A
MyVariant Identifiers: chr9:g.127255362G>A (hg19) chr9:g.124493083G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124493083G>A , CM000671.2:g.124493083G>A GRCh38
NC_000009.11:g.127255362G>A , CM000671.1:g.127255362G>A GRCh37
NC_000009.10:g.126295183G>A NCBI36
NG_008176.1:g.19338C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373588.9:c.937C>T MANE Select ENSP00000362690.4:p.Arg313Cys
ENST00000373587.3:c.289C>T ENSP00000362689.3:p.Arg97Cys
ENST00000373588.8:c.937C>T ENSP00000362690.4:p.Arg313Cys
ENST00000620110.4:c.871-1855C>T ENSP00000483309.1:n.871-1855C>T
NM_004959.4:c.937C>T NP_004950.2:p.Arg313Cys
XM_005251871.2:c.937C>T XP_005251928.1:p.Arg313Cys
XM_005251872.3:c.676C>T XP_005251929.1:p.Arg226Cys
XM_011518455.1:c.937C>T XP_011516757.1:p.Arg313Cys
XM_011518456.1:c.870+7007C>T XP_011516758.1:n.870+7007C>T
NM_004959.5:c.937C>T MANE Select NP_004950.2:p.Arg313Cys
Search 100 bp 5'
Search 100 bp 3'