Canonical Allele Identifier: CA2574438026
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007563T>C , CM000663.2:g.94007563T>C GRCh38
NC_000001.10:g.94473119T>C , CM000663.1:g.94473119T>C GRCh37
NC_000001.9:g.94245707T>C NCBI36
NG_009073.1:g.118587A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6005+71A>G MANE Select ENSP00000359245.3:n.6005+71A>G
ENST00000370225.3:c.6005+71A>G ENSP00000359245.3:n.6005+71A>G
ENST00000465352.1:n.421+71A>G
ENST00000484388.1:n.119+71A>G
ENST00000536513.5:c.2381+71A>G ENSP00000439707.2:n.2381+71A>G
NM_000350.2:c.6005+71A>G NP_000341.2:n.6005+71A>G
NM_000350.3:c.6005+71A>G MANE Select NP_000341.2:n.6005+71A>G
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