Canonical Allele Identifier: CA2744617406
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041489T>G , CM000663.2:g.94041489T>G GRCh38
NC_000001.10:g.94507045T>G , CM000663.1:g.94507045T>G GRCh37
NC_000001.9:g.94279633T>G NCBI36
NG_009073.1:g.84661A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-87A>C MANE Select ENSP00000359245.3:n.3329-87A>C
ENST00000370225.3:c.3329-87A>C ENSP00000359245.3:n.3329-87A>C
ENST00000536513.5:c.-64-1400A>C ENSP00000439707.2:n.-64-1400A>C
NM_000350.2:c.3329-87A>C NP_000341.2:n.3329-87A>C
NM_000350.3:c.3329-87A>C MANE Select NP_000341.2:n.3329-87A>C
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