Canonical Allele Identifier: CA2522949196
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94041543-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041543G>T , CM000663.2:g.94041543G>T GRCh38
NC_000001.10:g.94507099G>T , CM000663.1:g.94507099G>T GRCh37
NC_000001.9:g.94279687G>T NCBI36
NG_009073.1:g.84607C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-141C>A MANE Select ENSP00000359245.3:n.3329-141C>A
ENST00000370225.3:c.3329-141C>A ENSP00000359245.3:n.3329-141C>A
ENST00000536513.5:c.-64-1454C>A ENSP00000439707.2:n.-64-1454C>A
NM_000350.2:c.3329-141C>A NP_000341.2:n.3329-141C>A
NM_000350.3:c.3329-141C>A MANE Select NP_000341.2:n.3329-141C>A
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