Canonical Allele Identifier: CA341279421
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94473210A>C (hg19) chr1:g.94007654A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007654A>C , CM000663.2:g.94007654A>C GRCh38
NC_000001.10:g.94473210A>C , CM000663.1:g.94473210A>C GRCh37
NC_000001.9:g.94245798A>C NCBI36
NG_009073.1:g.118496T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5985T>G MANE Select ENSP00000359245.3:p.Asp1995Glu
ENST00000370225.3:c.5985T>G ENSP00000359245.3:p.Asp1995Glu
ENST00000465352.1:n.401T>G
ENST00000484388.1:n.99T>G
ENST00000536513.5:c.2361T>G ENSP00000439707.2:p.Asp787Glu
NM_000350.2:c.5985T>G NP_000341.2:p.Asp1995Glu
NM_000350.3:c.5985T>G MANE Select NP_000341.2:p.Asp1995Glu
Search 100 bp 5'
Search 100 bp 3'