Canonical Allele Identifier: CA2574437744
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-93996020-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93996020G>T , CM000663.2:g.93996020G>T GRCh38
NC_000001.10:g.94461576G>T , CM000663.1:g.94461576G>T GRCh37
NC_000001.9:g.94234164G>T NCBI36
NG_009073.1:g.130130C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6816+89C>A MANE Select ENSP00000359245.3:n.6816+89C>A
ENST00000370225.3:c.6816+89C>A ENSP00000359245.3:n.6816+89C>A
ENST00000536513.5:c.3192+89C>A ENSP00000439707.2:n.3192+89C>A
NM_000350.2:c.6816+89C>A NP_000341.2:n.6816+89C>A
NM_000350.3:c.6816+89C>A MANE Select NP_000341.2:n.6816+89C>A
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