Canonical Allele Identifier: CA2567592554
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94010788G>A , CM000663.2:g.94010788G>A GRCh38
NC_000001.10:g.94476344G>A , CM000663.1:g.94476344G>A GRCh37
NC_000001.9:g.94248932G>A NCBI36
NG_009073.1:g.115362C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5714+12C>T MANE Select ENSP00000359245.3:n.5714+12C>T
ENST00000370225.3:c.5714+12C>T ENSP00000359245.3:n.5714+12C>T
ENST00000465352.1:n.130+12C>T
ENST00000536513.5:c.2090+12C>T ENSP00000439707.2:n.2090+12C>T
NM_000350.2:c.5714+12C>T NP_000341.2:n.5714+12C>T
NM_000350.3:c.5714+12C>T MANE Select NP_000341.2:n.5714+12C>T
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