Canonical Allele Identifier: CA2574438100
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008180A>G , CM000663.2:g.94008180A>G GRCh38
NC_000001.10:g.94473736A>G , CM000663.1:g.94473736A>G GRCh37
NC_000001.9:g.94246324A>G NCBI36
NG_009073.1:g.117970T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5898+55T>C MANE Select ENSP00000359245.3:n.5898+55T>C
ENST00000370225.3:c.5898+55T>C ENSP00000359245.3:n.5898+55T>C
ENST00000465352.1:n.314+55T>C
ENST00000536513.5:c.2274+55T>C ENSP00000439707.2:n.2274+55T>C
NM_000350.2:c.5898+55T>C NP_000341.2:n.5898+55T>C
NM_000350.3:c.5898+55T>C MANE Select NP_000341.2:n.5898+55T>C
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