Canonical Allele Identifier: CA1144233005
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047055C= , CM000663.2:g.94047055C= GRCh38
NC_000001.10:g.94512611C= , CM000663.1:g.94512611C= GRCh37
NC_000001.9:g.94285199C= NCBI36
NG_009073.1:g.79095G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2782G= MANE Select ENSP00000359245.3:p.Gly928=
ENST00000649773.1:c.2560G= ENSP00000496882.1:p.Gly854=
ENST00000370225.3:c.2782G= ENSP00000359245.3:p.Gly928=
ENST00000536513.5:c.-64-6966G= ENSP00000439707.2:n.-64-6966G=
NM_000350.2:c.2782G= NP_000341.2:p.Gly928=
NM_000350.3:c.2782G= MANE Select NP_000341.2:p.Gly928=