Canonical Allele Identifier: CA2646644595
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-93996034-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93996034C>G , CM000663.2:g.93996034C>G GRCh38
NC_000001.10:g.94461590C>G , CM000663.1:g.94461590C>G GRCh37
NC_000001.9:g.94234178C>G NCBI36
NG_009073.1:g.130116G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6816+75G>C MANE Select ENSP00000359245.3:n.6816+75G>C
ENST00000370225.3:c.6816+75G>C ENSP00000359245.3:n.6816+75G>C
ENST00000536513.5:c.3192+75G>C ENSP00000439707.2:n.3192+75G>C
NM_000350.2:c.6816+75G>C NP_000341.2:n.6816+75G>C
NM_000350.3:c.6816+75G>C MANE Select NP_000341.2:n.6816+75G>C
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