Canonical Allele Identifier: CA1181408676
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021726G= , CM000663.2:g.94021726G= GRCh38
NC_000001.10:g.94487282G= , CM000663.1:g.94487282G= GRCh37
NC_000001.9:g.94259870G= NCBI36
NG_009073.1:g.104424C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4774-12C= MANE Select ENSP00000359245.3:n.4774-12C=
ENST00000370225.3:c.4774-12C= ENSP00000359245.3:n.4774-12C=
ENST00000460514.1:n.268-12C=
ENST00000536513.5:c.1150-12C= ENSP00000439707.2:n.1150-12C=
NM_000350.2:c.4774-12C= NP_000341.2:n.4774-12C=
NM_000350.3:c.4774-12C= MANE Select NP_000341.2:n.4774-12C=
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