Canonical Allele Identifier: CA122721
Gene: NR5A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 12806
dbSNP Id: rs121918656

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503393C>T , CM000671.2:g.124503393C>T GRCh38
NC_000009.11:g.127265672C>T , CM000671.1:g.127265672C>T GRCh37
NC_000009.10:g.126305493C>T NCBI36
NG_008176.1:g.9028G>A

Transcript Alleles

HGVS Amino-acid change
NM_004959.4:c.3G>A VV
XM_005251871.2:c.3G>A
XM_005251872.3:c.-117G>A XP_005251929.1:p.=
XM_011518455.1:c.3G>A
XM_011518456.1:c.3G>A
NM_004959.5:c.3G>A VV MANE Preferred
ENST00000373588.8:c.3G>A
ENST00000455734.1:c.3G>A
ENST00000620110.4:c.3G>A