Canonical Allele Identifier: CA374890510
Gene: NR5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503183T>A , CM000671.2:g.124503183T>A GRCh38
NC_000009.11:g.127265462T>A , CM000671.1:g.127265462T>A GRCh37
NC_000009.10:g.126305283T>A NCBI36
NG_008176.1:g.9238A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.140A>T MANE Select ENSP00000362690.4:p.Tyr47Phe
ENST00000373588.8:c.140A>T ENSP00000362690.4:p.Tyr47Phe
ENST00000455734.1:c.140A>T ENSP00000393245.1:p.Tyr47Phe
ENST00000620110.4:c.140A>T ENSP00000483309.1:p.Tyr47Phe
NM_004959.4:c.140A>T NP_004950.2:p.Tyr47Phe
XM_005251871.2:c.140A>T XP_005251928.1:p.Tyr47Phe
XM_005251872.3:c.-18+111A>T XP_005251929.1:n.-18+111A>T
XM_011518455.1:c.140A>T XP_011516757.1:p.Tyr47Phe
XM_011518456.1:c.140A>T XP_011516758.1:p.Tyr47Phe
NM_004959.5:c.140A>T MANE Select NP_004950.2:p.Tyr47Phe