Canonical Allele Identifier: CA341275352
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046953G>T , CM000663.2:g.94046953G>T GRCh38
NC_000001.10:g.94512509G>T , CM000663.1:g.94512509G>T GRCh37
NC_000001.9:g.94285097G>T NCBI36
NG_009073.1:g.79197C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2884C>A MANE Select ENSP00000359245.3:p.Leu962Met
ENST00000649773.1:c.2662C>A ENSP00000496882.1:p.Leu888Met
ENST00000370225.3:c.2884C>A ENSP00000359245.3:p.Leu962Met
ENST00000536513.5:c.-64-6864C>A ENSP00000439707.2:n.-64-6864C>A
NM_000350.2:c.2884C>A NP_000341.2:p.Leu962Met
NM_000350.3:c.2884C>A MANE Select NP_000341.2:p.Leu962Met