Canonical Allele Identifier: CA2573339710
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067477A>C , CM000663.2:g.94067477A>C GRCh38
NC_000001.10:g.94533033A>C , CM000663.1:g.94533033A>C GRCh37
NC_000001.9:g.94305621A>C NCBI36
NG_009073.1:g.58673T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1555-4160T>G MANE Select ENSP00000359245.3:n.1555-4160T>G
ENST00000649773.1:c.1555-4160T>G ENSP00000496882.1:n.1555-4160T>G
ENST00000370225.3:c.1555-4160T>G ENSP00000359245.3:n.1555-4160T>G
NM_000350.2:c.1555-4160T>G NP_000341.2:n.1555-4160T>G
NM_000350.3:c.1555-4160T>G MANE Select NP_000341.2:n.1555-4160T>G
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