Canonical Allele Identifier: CA2547393662
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031707C>A , CM000663.2:g.94031707C>A GRCh38
NC_000001.10:g.94497263C>A , CM000663.1:g.94497263C>A GRCh37
NC_000001.9:g.94269851C>A NCBI36
NG_009073.1:g.94443G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4128+71G>T MANE Select ENSP00000359245.3:n.4128+71G>T
ENST00000370225.3:c.4128+71G>T ENSP00000359245.3:n.4128+71G>T
ENST00000536513.5:c.504+71G>T ENSP00000439707.2:n.504+71G>T
NM_000350.2:c.4128+71G>T NP_000341.2:n.4128+71G>T
NM_000350.3:c.4128+71G>T MANE Select NP_000341.2:n.4128+71G>T
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