Canonical Allele Identifier: CA341278564
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060606C>A , CM000663.2:g.94060606C>A GRCh38
NC_000001.10:g.94526162C>A , CM000663.1:g.94526162C>A GRCh37
NC_000001.9:g.94298750C>A NCBI36
NG_009073.1:g.65544G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2091G>T MANE Select ENSP00000359245.3:p.Trp697Cys
ENST00000649773.1:c.2091G>T ENSP00000496882.1:p.Trp697Cys
ENST00000370225.3:c.2091G>T ENSP00000359245.3:p.Trp697Cys
ENST00000472033.1:n.211G>T
ENST00000536513.5:c.-65+2568G>T ENSP00000439707.2:n.-65+2568G>T
NM_000350.2:c.2091G>T NP_000341.2:p.Trp697Cys
NM_000350.3:c.2091G>T MANE Select NP_000341.2:p.Trp697Cys