Canonical Allele Identifier: CA374890745
Gene: NR5A1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124503343T>C , CM000671.2:g.124503343T>C GRCh38
NC_000009.11:g.127265622T>C , CM000671.1:g.127265622T>C GRCh37
NC_000009.10:g.126305443T>C NCBI36
NG_008176.1:g.9078A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373588.9:c.53A>G MANE Select ENSP00000362690.4:p.Asp18Gly
ENST00000373588.8:c.53A>G ENSP00000362690.4:p.Asp18Gly
ENST00000455734.1:c.53A>G ENSP00000393245.1:p.Asp18Gly
ENST00000620110.4:c.53A>G ENSP00000483309.1:p.Asp18Gly
NM_004959.4:c.53A>G NP_004950.2:p.Asp18Gly
XM_005251871.2:c.53A>G XP_005251928.1:p.Asp18Gly
XM_005251872.3:c.-67A>G XP_005251929.1:n.-67A>G
XM_011518455.1:c.53A>G XP_011516757.1:p.Asp18Gly
XM_011518456.1:c.53A>G XP_011516758.1:p.Asp18Gly
NM_004959.5:c.53A>G MANE Select NP_004950.2:p.Asp18Gly