Canonical Allele Identifier: CA2744615595
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021140A>T , CM000663.2:g.94021140A>T GRCh38
NC_000001.10:g.94486696A>T , CM000663.1:g.94486696A>T GRCh37
NC_000001.9:g.94259284A>T NCBI36
NG_009073.1:g.105010T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5018+100T>A MANE Select ENSP00000359245.3:n.5018+100T>A
ENST00000370225.3:c.5018+100T>A ENSP00000359245.3:n.5018+100T>A
ENST00000460514.1:n.512+100T>A
ENST00000470771.1:n.128+100T>A
ENST00000536513.5:c.1394+100T>A ENSP00000439707.2:n.1394+100T>A
NM_000350.2:c.5018+100T>A NP_000341.2:n.5018+100T>A
NM_000350.3:c.5018+100T>A MANE Select NP_000341.2:n.5018+100T>A
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