Canonical Allele Identifier: CA341275685
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94461675C>A (hg19) chr1:g.93996119C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93996119C>A , CM000663.2:g.93996119C>A GRCh38
NC_000001.10:g.94461675C>A , CM000663.1:g.94461675C>A GRCh37
NC_000001.9:g.94234263C>A NCBI36
NG_009073.1:g.130031G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6806G>T MANE Select ENSP00000359245.3:p.Arg2269Leu
ENST00000370225.3:c.6806G>T ENSP00000359245.3:p.Arg2269Leu
ENST00000536513.5:c.3182G>T ENSP00000439707.2:p.Arg1061Leu
NM_000350.2:c.6806G>T NP_000341.2:p.Arg2269Leu
NM_000350.3:c.6806G>T MANE Select NP_000341.2:p.Arg2269Leu
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