Canonical Allele Identifier: CA341276472
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997982T>A , CM000663.2:g.93997982T>A GRCh38
NC_000001.10:g.94463538T>A , CM000663.1:g.94463538T>A GRCh37
NC_000001.9:g.94236126T>A NCBI36
NG_009073.1:g.128168A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6608A>T MANE Select ENSP00000359245.3:p.Tyr2203Phe
ENST00000370225.3:c.6608A>T ENSP00000359245.3:p.Tyr2203Phe
ENST00000536513.5:c.2984A>T ENSP00000439707.2:p.Tyr995Phe
NM_000350.2:c.6608A>T NP_000341.2:p.Tyr2203Phe
NM_000350.3:c.6608A>T MANE Select NP_000341.2:p.Tyr2203Phe