Canonical Allele Identifier: CA1140726039
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029405G= , CM000663.2:g.94029405G= GRCh38
NC_000001.10:g.94494961G= , CM000663.1:g.94494961G= GRCh37
NC_000001.9:g.94267549G= NCBI36
NG_009073.1:g.96745C=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4539+40C= MANE Select ENSP00000359245.3:n.4539+40C=
ENST00000370225.3:c.4539+40C= ENSP00000359245.3:n.4539+40C=
ENST00000536513.5:c.915+40C= ENSP00000439707.2:n.915+40C=
NM_000350.2:c.4539+40C= NP_000341.2:n.4539+40C=
NM_000350.3:c.4539+40C= MANE Select NP_000341.2:n.4539+40C=
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