Canonical Allele Identifier: CA2519253354
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067399G>A , CM000663.2:g.94067399G>A GRCh38
NC_000001.10:g.94532955G>A , CM000663.1:g.94532955G>A GRCh37
NC_000001.9:g.94305543G>A NCBI36
NG_009073.1:g.58751C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1555-4082C>T MANE Select ENSP00000359245.3:n.1555-4082C>T
ENST00000649773.1:c.1555-4082C>T ENSP00000496882.1:n.1555-4082C>T
ENST00000370225.3:c.1555-4082C>T ENSP00000359245.3:n.1555-4082C>T
NM_000350.2:c.1555-4082C>T NP_000341.2:n.1555-4082C>T
NM_000350.3:c.1555-4082C>T MANE Select NP_000341.2:n.1555-4082C>T
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