Canonical Allele Identifier: CA374888617
Gene: NR5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124500629C>T , CM000671.2:g.124500629C>T GRCh38
NC_000009.11:g.127262908C>T , CM000671.1:g.127262908C>T GRCh37
NC_000009.10:g.126302729C>T NCBI36
NG_008176.1:g.11792G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.331G>A MANE Select ENSP00000362690.4:p.Ala111Thr
ENST00000373587.3:c.39+319G>A ENSP00000362689.3:n.39+319G>A
ENST00000373588.8:c.331G>A ENSP00000362690.4:p.Ala111Thr
ENST00000455734.1:c.331G>A ENSP00000393245.1:p.Ala111Thr
ENST00000620110.4:c.331G>A ENSP00000483309.1:p.Ala111Thr
NM_004959.4:c.331G>A NP_004950.2:p.Ala111Thr
XM_005251871.2:c.331G>A XP_005251928.1:p.Ala111Thr
XM_005251872.3:c.70G>A XP_005251929.1:p.Ala24Thr
XM_011518455.1:c.331G>A XP_011516757.1:p.Ala111Thr
XM_011518456.1:c.331G>A XP_011516758.1:p.Ala111Thr
NM_004959.5:c.331G>A MANE Select NP_004950.2:p.Ala111Thr