Canonical Allele Identifier: CA1181402711
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007577A= , CM000663.2:g.94007577A= GRCh38
NC_000001.10:g.94473133A= , CM000663.1:g.94473133A= GRCh37
NC_000001.9:g.94245721A= NCBI36
NG_009073.1:g.118573T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6005+57T= MANE Select ENSP00000359245.3:n.6005+57T=
ENST00000370225.3:c.6005+57T= ENSP00000359245.3:n.6005+57T=
ENST00000465352.1:n.421+57T=
ENST00000484388.1:n.119+57T=
ENST00000536513.5:c.2381+57T= ENSP00000439707.2:n.2381+57T=
NM_000350.2:c.6005+57T= NP_000341.2:n.6005+57T=
NM_000350.3:c.6005+57T= MANE Select NP_000341.2:n.6005+57T=
Search 100 bp 5'
Search 100 bp 3'