Canonical Allele Identifier: CA2573339713
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067520T>A , CM000663.2:g.94067520T>A GRCh38
NC_000001.10:g.94533076T>A , CM000663.1:g.94533076T>A GRCh37
NC_000001.9:g.94305664T>A NCBI36
NG_009073.1:g.58630A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1555-4203A>T MANE Select ENSP00000359245.3:n.1555-4203A>T
ENST00000649773.1:c.1555-4203A>T ENSP00000496882.1:n.1555-4203A>T
ENST00000370225.3:c.1555-4203A>T ENSP00000359245.3:n.1555-4203A>T
NM_000350.2:c.1555-4203A>T NP_000341.2:n.1555-4203A>T
NM_000350.3:c.1555-4203A>T MANE Select NP_000341.2:n.1555-4203A>T
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