Canonical Allele Identifier: CA418819708
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94481309C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94015753C>G , CM000663.2:g.94015753C>G GRCh38
NC_000001.10:g.94481309C>G , CM000663.1:g.94481309C>G GRCh37
NC_000001.9:g.94253897C>G NCBI36
NG_009073.1:g.110397G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5298G>C MANE Select ENSP00000359245.3:p.Leu1766=
ENST00000370225.3:c.5298G>C ENSP00000359245.3:p.Leu1766=
ENST00000536513.5:c.1674G>C ENSP00000439707.2:p.Leu558=
NM_000350.2:c.5298G>C NP_000341.2:p.Leu1766=
NM_000350.3:c.5298G>C MANE Select NP_000341.2:p.Leu1766=
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