Canonical Allele Identifier: CA341275684
Gene: ABCA4 HGNC NCBI

Linked Data

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

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

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6806G>C MANE Select ENSP00000359245.3:p.Arg2269Pro
ENST00000370225.3:c.6806G>C ENSP00000359245.3:p.Arg2269Pro
ENST00000536513.5:c.3182G>C ENSP00000439707.2:p.Arg1061Pro
NM_000350.2:c.6806G>C NP_000341.2:p.Arg2269Pro
NM_000350.3:c.6806G>C MANE Select NP_000341.2:p.Arg2269Pro
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