Canonical Allele Identifier: CA2272580197
Gene: ABCA5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.69253724T= , CM000679.2:g.69253724T= GRCh38
NC_000017.10:g.67249865T= , CM000679.1:g.67249865T= GRCh37
NC_000017.9:g.64761460T= NCBI36
NG_034199.1:g.78459A=

Transcript Alleles

HGVS Amino-acid change
ENST00000392676.8:c.4321-57A= MANE Select ENSP00000376443.2:n.4321-57A=
ENST00000392676.7:c.4321-57A= ENSP00000376443.2:n.4321-57A=
ENST00000586811.1:c.1219-57A= ENSP00000465351.1:n.1219-57A=
ENST00000586995.5:c.3383-57A= ENSP00000467251.1:n.3383-57A=
ENST00000588877.5:c.4321-57A= ENSP00000467882.1:n.4321-57A=
ENST00000591234.5:c.2263-57A= ENSP00000465766.1:n.2263-57A=
NM_018672.4:c.4321-57A= NP_061142.2:n.4321-57A=
NM_172232.3:c.4321-57A= NP_758424.1:n.4321-57A=
NM_172232.4:c.4321-57A= MANE Select NP_758424.1:n.4321-57A=
NM_018672.5:c.4321-57A= NP_061142.2:n.4321-57A=