Canonical Allele Identifier: CA2573143851
Gene: NR5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1454827
ClinVar RCV Id: RCV001939594
dbSNP Id: rs2131279850
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124493038del , CM000671.2:g.124493038del GRCh38
NC_000009.11:g.127255317del , CM000671.1:g.127255317del GRCh37
NC_000009.10:g.126295138del NCBI36
NG_008176.1:g.19385del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.984del MANE Select ENSP00000362690.4:p.Gln329ArgfsTer5
ENST00000373587.3:c.336del ENSP00000362689.3:p.Gln113ArgfsTer5
ENST00000373588.8:c.984del ENSP00000362690.4:p.Gln329ArgfsTer5
ENST00000620110.4:c.871-1808del ENSP00000483309.1:n.871-1808del
NM_004959.4:c.984del NP_004950.2:p.Gln329ArgfsTer5
XM_005251871.2:c.984del XP_005251928.1:p.Gln329ArgfsTer5
XM_005251872.3:c.723del XP_005251929.1:p.Gln242ArgfsTer5
XM_011518455.1:c.984del XP_011516757.1:p.Gln329ArgfsTer5
XM_011518456.1:c.870+7054del XP_011516758.1:n.870+7054del
NM_004959.5:c.984del MANE Select NP_004950.2:p.Gln329ArgfsTer5
Search 100 bp 5'
Search 100 bp 3'