Canonical Allele Identifier: CA122712
Gene: NR5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12798
ClinVar RCV Id: RCV000013642
dbSNP Id: rs104894123

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503348G>T , CM000671.2:g.124503348G>T GRCh38
NC_000009.11:g.127265627G>T , CM000671.1:g.127265627G>T GRCh37
NC_000009.10:g.126305448G>T NCBI36
NG_008176.1:g.9073C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.48C>A MANE Select ENSP00000362690.4:p.Cys16Ter
ENST00000373588.8:c.48C>A ENSP00000362690.4:p.Cys16Ter
ENST00000455734.1:c.48C>A ENSP00000393245.1:p.Cys16Ter
ENST00000620110.4:c.48C>A ENSP00000483309.1:p.Cys16Ter
NM_004959.4:c.48C>A NP_004950.2:p.Cys16Ter
XM_005251871.2:c.48C>A XP_005251928.1:p.Cys16Ter
XM_005251872.3:c.-72C>A XP_005251929.1:n.-72C>A
XM_011518455.1:c.48C>A XP_011516757.1:p.Cys16Ter
XM_011518456.1:c.48C>A XP_011516758.1:p.Cys16Ter
NM_004959.5:c.48C>A MANE Select NP_004950.2:p.Cys16Ter