Canonical Allele Identifier: CA341284897
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029503T>A , CM000663.2:g.94029503T>A GRCh38
NC_000001.10:g.94495059T>A , CM000663.1:g.94495059T>A GRCh37
NC_000001.9:g.94267647T>A NCBI36
NG_009073.1:g.96647A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4481A>T MANE Select ENSP00000359245.3:p.Glu1494Val
ENST00000370225.3:c.4481A>T ENSP00000359245.3:p.Glu1494Val
ENST00000536513.5:c.857A>T ENSP00000439707.2:p.Glu286Val
NM_000350.2:c.4481A>T NP_000341.2:p.Glu1494Val
NM_000350.3:c.4481A>T MANE Select NP_000341.2:p.Glu1494Val