Canonical Allele Identifier: CA645706329
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041490A>T , CM000663.2:g.94041490A>T GRCh38
NC_000001.10:g.94507046A>T , CM000663.1:g.94507046A>T GRCh37
NC_000001.9:g.94279634A>T NCBI36
NG_009073.1:g.84660T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-88T>A MANE Select ENSP00000359245.3:n.3329-88T>A
ENST00000370225.3:c.3329-88T>A ENSP00000359245.3:n.3329-88T>A
ENST00000536513.5:c.-64-1401T>A ENSP00000439707.2:n.-64-1401T>A
NM_000350.2:c.3329-88T>A NP_000341.2:n.3329-88T>A
NM_000350.3:c.3329-88T>A MANE Select NP_000341.2:n.3329-88T>A