Canonical Allele Identifier: CA341279414
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94473208G>T (hg19) chr1:g.94007652G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007652G>T , CM000663.2:g.94007652G>T GRCh38
NC_000001.10:g.94473208G>T , CM000663.1:g.94473208G>T GRCh37
NC_000001.9:g.94245796G>T NCBI36
NG_009073.1:g.118498C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5987C>A MANE Select ENSP00000359245.3:p.Ala1996Asp
ENST00000370225.3:c.5987C>A ENSP00000359245.3:p.Ala1996Asp
ENST00000465352.1:n.403C>A
ENST00000484388.1:n.101C>A
ENST00000536513.5:c.2363C>A ENSP00000439707.2:p.Ala788Asp
NM_000350.2:c.5987C>A NP_000341.2:p.Ala1996Asp
NM_000350.3:c.5987C>A MANE Select NP_000341.2:p.Ala1996Asp
Search 100 bp 5'
Search 100 bp 3'