Canonical Allele Identifier: CA341275593
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94512631T>G (hg19) chr1:g.94047075T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047075T>G , CM000663.2:g.94047075T>G GRCh38
NC_000001.10:g.94512631T>G , CM000663.1:g.94512631T>G GRCh37
NC_000001.9:g.94285219T>G NCBI36
NG_009073.1:g.79075A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2762A>C MANE Select ENSP00000359245.3:p.Glu921Ala
ENST00000649773.1:c.2540A>C ENSP00000496882.1:p.Glu847Ala
ENST00000370225.3:c.2762A>C ENSP00000359245.3:p.Glu921Ala
ENST00000536513.5:c.-64-6986A>C ENSP00000439707.2:n.-64-6986A>C
NM_000350.2:c.2762A>C NP_000341.2:p.Glu921Ala
NM_000350.3:c.2762A>C MANE Select NP_000341.2:p.Glu921Ala
Search 100 bp 5'
Search 100 bp 3'