Canonical Allele Identifier: CA1181426459
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94056618C= , CM000663.2:g.94056618C= GRCh38
NC_000001.10:g.94522174C= , CM000663.1:g.94522174C= GRCh37
NC_000001.9:g.94294762C= NCBI36
NG_009073.1:g.69532G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2365G= MANE Select ENSP00000359245.3:p.Glu789=
ENST00000649773.1:c.2161-1303G= ENSP00000496882.1:n.2161-1303G=
ENST00000370225.3:c.2365G= ENSP00000359245.3:p.Glu789=
ENST00000536513.5:c.-65+6556G= ENSP00000439707.2:n.-65+6556G=
NM_000350.2:c.2365G= NP_000341.2:p.Glu789=
NM_000350.3:c.2365G= MANE Select NP_000341.2:p.Glu789=
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