Canonical Allele Identifier: CA2646646053
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94007614-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007614A>C , CM000663.2:g.94007614A>C GRCh38
NC_000001.10:g.94473170A>C , CM000663.1:g.94473170A>C GRCh37
NC_000001.9:g.94245758A>C NCBI36
NG_009073.1:g.118536T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6005+20T>G MANE Select ENSP00000359245.3:n.6005+20T>G
ENST00000370225.3:c.6005+20T>G ENSP00000359245.3:n.6005+20T>G
ENST00000465352.1:n.421+20T>G
ENST00000484388.1:n.119+20T>G
ENST00000536513.5:c.2381+20T>G ENSP00000439707.2:n.2381+20T>G
NM_000350.2:c.6005+20T>G NP_000341.2:n.6005+20T>G
NM_000350.3:c.6005+20T>G MANE Select NP_000341.2:n.6005+20T>G
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