Canonical Allele Identifier: CA341275355
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94512511A>T (hg19) chr1:g.94046955A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046955A>T , CM000663.2:g.94046955A>T GRCh38
NC_000001.10:g.94512511A>T , CM000663.1:g.94512511A>T GRCh37
NC_000001.9:g.94285099A>T NCBI36
NG_009073.1:g.79195T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2882T>A MANE Select ENSP00000359245.3:p.Phe961Tyr
ENST00000649773.1:c.2660T>A ENSP00000496882.1:p.Phe887Tyr
ENST00000370225.3:c.2882T>A ENSP00000359245.3:p.Phe961Tyr
ENST00000536513.5:c.-64-6866T>A ENSP00000439707.2:n.-64-6866T>A
NM_000350.2:c.2882T>A NP_000341.2:p.Phe961Tyr
NM_000350.3:c.2882T>A MANE Select NP_000341.2:p.Phe961Tyr
Search 100 bp 5'
Search 100 bp 3'