Canonical Allele Identifier: CA122717
Gene: NR5A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12802
ClinVar RCV Id: RCV000013646
dbSNP Id: rs104894126

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500689C>T , CM000671.2:g.124500689C>T GRCh38
NC_000009.11:g.127262968C>T , CM000671.1:g.127262968C>T GRCh37
NC_000009.10:g.126302789C>T NCBI36
NG_008176.1:g.11732G>A

Transcript Alleles

HGVS Amino-acid change
NM_004959.4:c.271G>A VV NP_004950.2:p.Gly91Ser
XM_005251871.2:c.271G>A XP_005251928.1:p.Gly91Ser
XM_005251872.3:c.10G>A XP_005251929.1:p.Gly4Ser
XM_011518455.1:c.271G>A XP_011516757.1:p.Gly91Ser
XM_011518456.1:c.271G>A XP_011516758.1:p.Gly91Ser
NM_004959.5:c.271G>A VV MANE Preferred
ENST00000373587.3:n.39+259G>A ENSP00000362689.3:p.=
ENST00000373588.8:c.271G>A ENSP00000362690.4:p.Gly91Ser
ENST00000455734.1:c.271G>A ENSP00000393245.1:p.Gly91Ser
ENST00000620110.4:c.271G>A ENSP00000483309.1:p.Gly91Ser