Canonical Allele Identifier: CA341281066
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94476868A>C (hg19) chr1:g.94011312A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94011312A>C , CM000663.2:g.94011312A>C GRCh38
NC_000001.10:g.94476868A>C , CM000663.1:g.94476868A>C GRCh37
NC_000001.9:g.94249456A>C NCBI36
NG_009073.1:g.114838T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5534T>G MANE Select ENSP00000359245.3:p.Leu1845Arg
ENST00000370225.3:c.5534T>G ENSP00000359245.3:p.Leu1845Arg
ENST00000536513.5:c.1910T>G ENSP00000439707.2:p.Leu637Arg
NM_000350.2:c.5534T>G NP_000341.2:p.Leu1845Arg
NM_000350.3:c.5534T>G MANE Select NP_000341.2:p.Leu1845Arg
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Search 100 bp 3'