Canonical Allele Identifier: CA400824566
Gene: ABCA5 HGNC NCBI

Linked Data

dbSNP Id: rs1402163195

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.69253826C>T , CM000679.2:g.69253826C>T GRCh38
NC_000017.10:g.67249967C>T , CM000679.1:g.67249967C>T GRCh37
NC_000017.9:g.64761562C>T NCBI36
NG_034199.1:g.78357G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392676.8:c.4288G>A MANE Select ENSP00000376443.2:p.Val1430Ile
ENST00000392676.7:c.4288G>A ENSP00000376443.2:p.Val1430Ile
ENST00000586811.1:c.1186G>A ENSP00000465351.1:p.Val396Ile
ENST00000586995.5:c.3350G>A ENSP00000467251.1:n.3350G>A
ENST00000588877.5:c.4288G>A ENSP00000467882.1:p.Val1430Ile
ENST00000591234.5:c.2230G>A ENSP00000465766.1:n.2230G>A
NM_018672.4:c.4288G>A NP_061142.2:p.Val1430Ile
NM_172232.3:c.4288G>A NP_758424.1:p.Val1430Ile
NM_172232.4:c.4288G>A MANE Select NP_758424.1:p.Val1430Ile
NM_018672.5:c.4288G>A NP_061142.2:p.Val1430Ile