Canonical Allele Identifier: CA341275347
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046950C>A , CM000663.2:g.94046950C>A GRCh38
NC_000001.10:g.94512506C>A , CM000663.1:g.94512506C>A GRCh37
NC_000001.9:g.94285094C>A NCBI36
NG_009073.1:g.79200G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2887G>T MANE Select ENSP00000359245.3:p.Gly963Cys
ENST00000649773.1:c.2665G>T ENSP00000496882.1:p.Gly889Cys
ENST00000370225.3:c.2887G>T ENSP00000359245.3:p.Gly963Cys
ENST00000536513.5:c.-64-6861G>T ENSP00000439707.2:n.-64-6861G>T
NM_000350.2:c.2887G>T NP_000341.2:p.Gly963Cys
NM_000350.3:c.2887G>T MANE Select NP_000341.2:p.Gly963Cys