Canonical Allele Identifier: CA2744614482
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007569C>G , CM000663.2:g.94007569C>G GRCh38
NC_000001.10:g.94473125C>G , CM000663.1:g.94473125C>G GRCh37
NC_000001.9:g.94245713C>G NCBI36
NG_009073.1:g.118581G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6005+65G>C MANE Select ENSP00000359245.3:n.6005+65G>C
ENST00000370225.3:c.6005+65G>C ENSP00000359245.3:n.6005+65G>C
ENST00000465352.1:n.421+65G>C
ENST00000484388.1:n.119+65G>C
ENST00000536513.5:c.2381+65G>C ENSP00000439707.2:n.2381+65G>C
NM_000350.2:c.6005+65G>C NP_000341.2:n.6005+65G>C
NM_000350.3:c.6005+65G>C MANE Select NP_000341.2:n.6005+65G>C
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