Canonical Allele Identifier: CA2646653660
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94111649-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111649T>A , CM000663.2:g.94111649T>A GRCh38
NC_000001.10:g.94577205T>A , CM000663.1:g.94577205T>A GRCh37
NC_000001.9:g.94349793T>A NCBI36
NG_009073.1:g.14501A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-70A>T MANE Select ENSP00000359245.3:n.161-70A>T
ENST00000649773.1:c.161-70A>T ENSP00000496882.1:n.161-70A>T
ENST00000370225.3:c.161-70A>T ENSP00000359245.3:n.161-70A>T
NM_000350.2:c.161-70A>T NP_000341.2:n.161-70A>T
NM_000350.3:c.161-70A>T MANE Select NP_000341.2:n.161-70A>T
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