Canonical Allele Identifier: CA374890694
Gene: NR5A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1075535
ClinVar RCV Id: RCV001389147
dbSNP Id: rs2131289982

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503321G>C , CM000671.2:g.124503321G>C GRCh38
NC_000009.11:g.127265600G>C , CM000671.1:g.127265600G>C GRCh37
NC_000009.10:g.126305421G>C NCBI36
NG_008176.1:g.9100C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.75C>G MANE Select ENSP00000362690.4:p.Tyr25Ter
ENST00000373588.8:c.75C>G ENSP00000362690.4:p.Tyr25Ter
ENST00000455734.1:c.75C>G ENSP00000393245.1:p.Tyr25Ter
ENST00000620110.4:c.75C>G ENSP00000483309.1:p.Tyr25Ter
NM_004959.4:c.75C>G NP_004950.2:p.Tyr25Ter
XM_005251871.2:c.75C>G XP_005251928.1:p.Tyr25Ter
XM_005251872.3:c.-45C>G XP_005251929.1:n.-45C>G
XM_011518455.1:c.75C>G XP_011516757.1:p.Tyr25Ter
XM_011518456.1:c.75C>G XP_011516758.1:p.Tyr25Ter
NM_004959.5:c.75C>G MANE Select NP_004950.2:p.Tyr25Ter