Canonical Allele Identifier: CA2744617827
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043332G>C , CM000663.2:g.94043332G>C GRCh38
NC_000001.10:g.94508888G>C , CM000663.1:g.94508888G>C GRCh37
NC_000001.9:g.94281476G>C NCBI36
NG_009073.1:g.82818C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3190+4C>G MANE Select ENSP00000359245.3:n.3190+4C>G
ENST00000370225.3:c.3190+4C>G ENSP00000359245.3:n.3190+4C>G
ENST00000536513.5:c.-64-3243C>G ENSP00000439707.2:n.-64-3243C>G
NM_000350.2:c.3190+4C>G NP_000341.2:n.3190+4C>G
NM_000350.3:c.3190+4C>G MANE Select NP_000341.2:n.3190+4C>G
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