Canonical Allele Identifier: CA400824572
Gene: ABCA5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.69253828G>T , CM000679.2:g.69253828G>T GRCh38
NC_000017.10:g.67249969G>T , CM000679.1:g.67249969G>T GRCh37
NC_000017.9:g.64761564G>T NCBI36
NG_034199.1:g.78355C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000392676.8:c.4286C>A MANE Select ENSP00000376443.2:p.Thr1429Asn
ENST00000392676.7:c.4286C>A ENSP00000376443.2:p.Thr1429Asn
ENST00000586811.1:c.1184C>A ENSP00000465351.1:p.Thr395Asn
ENST00000586995.5:c.3348C>A ENSP00000467251.1:n.3348C>A
ENST00000588877.5:c.4286C>A ENSP00000467882.1:p.Thr1429Asn
ENST00000591234.5:c.2228C>A ENSP00000465766.1:n.2228C>A
NM_018672.4:c.4286C>A NP_061142.2:p.Thr1429Asn
NM_172232.3:c.4286C>A NP_758424.1:p.Thr1429Asn
NM_172232.4:c.4286C>A MANE Select NP_758424.1:p.Thr1429Asn
NM_018672.5:c.4286C>A NP_061142.2:p.Thr1429Asn