Canonical Allele Identifier: CA400824651
Gene: ABCA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.69253842T>G , CM000679.2:g.69253842T>G GRCh38
NC_000017.10:g.67249983T>G , CM000679.1:g.67249983T>G GRCh37
NC_000017.9:g.64761578T>G NCBI36
NG_034199.1:g.78341A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392676.8:c.4272A>C MANE Select ENSP00000376443.2:p.Glu1424Asp
ENST00000392676.7:c.4272A>C ENSP00000376443.2:p.Glu1424Asp
ENST00000586811.1:c.1170A>C ENSP00000465351.1:p.Glu390Asp
ENST00000586995.5:c.3334A>C ENSP00000467251.1:n.3334A>C
ENST00000588877.5:c.4272A>C ENSP00000467882.1:p.Glu1424Asp
ENST00000591234.5:c.2214A>C ENSP00000465766.1:n.2214A>C
NM_018672.4:c.4272A>C NP_061142.2:p.Glu1424Asp
NM_172232.3:c.4272A>C NP_758424.1:p.Glu1424Asp
NM_172232.4:c.4272A>C MANE Select NP_758424.1:p.Glu1424Asp
NM_018672.5:c.4272A>C NP_061142.2:p.Glu1424Asp