Canonical Allele Identifier: CA341291992
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94508346A>C (hg19) chr1:g.94042790A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94042790A>C , CM000663.2:g.94042790A>C GRCh38
NC_000001.10:g.94508346A>C , CM000663.1:g.94508346A>C GRCh37
NC_000001.9:g.94280934A>C NCBI36
NG_009073.1:g.83360T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3299T>G MANE Select ENSP00000359245.3:p.Ile1100Ser
ENST00000370225.3:c.3299T>G ENSP00000359245.3:p.Ile1100Ser
ENST00000536513.5:c.-64-2701T>G ENSP00000439707.2:n.-64-2701T>G
NM_000350.2:c.3299T>G NP_000341.2:p.Ile1100Ser
NM_000350.3:c.3299T>G MANE Select NP_000341.2:p.Ile1100Ser
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