Canonical Allele Identifier: CA2646644577
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-93996017-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93996017T>C , CM000663.2:g.93996017T>C GRCh38
NC_000001.10:g.94461573T>C , CM000663.1:g.94461573T>C GRCh37
NC_000001.9:g.94234161T>C NCBI36
NG_009073.1:g.130133A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6816+92A>G MANE Select ENSP00000359245.3:n.6816+92A>G
ENST00000370225.3:c.6816+92A>G ENSP00000359245.3:n.6816+92A>G
ENST00000536513.5:c.3192+92A>G ENSP00000439707.2:n.3192+92A>G
NM_000350.2:c.6816+92A>G NP_000341.2:n.6816+92A>G
NM_000350.3:c.6816+92A>G MANE Select NP_000341.2:n.6816+92A>G
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