Canonical Allele Identifier: CA2646646397
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94008313-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008313A>C , CM000663.2:g.94008313A>C GRCh38
NC_000001.10:g.94473869A>C , CM000663.1:g.94473869A>C GRCh37
NC_000001.9:g.94246457A>C NCBI36
NG_009073.1:g.117837T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5836-16T>G MANE Select ENSP00000359245.3:n.5836-16T>G
ENST00000370225.3:c.5836-16T>G ENSP00000359245.3:n.5836-16T>G
ENST00000465352.1:n.252-16T>G
ENST00000536513.5:c.2212-16T>G ENSP00000439707.2:n.2212-16T>G
NM_000350.2:c.5836-16T>G NP_000341.2:n.5836-16T>G
NM_000350.3:c.5836-16T>G MANE Select NP_000341.2:n.5836-16T>G
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