Canonical Allele Identifier: CA1181428037
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060604C= , CM000663.2:g.94060604C= GRCh38
NC_000001.10:g.94526160C= , CM000663.1:g.94526160C= GRCh37
NC_000001.9:g.94298748C= NCBI36
NG_009073.1:g.65546G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2093G= MANE Select ENSP00000359245.3:p.Cys698=
ENST00000649773.1:c.2093G= ENSP00000496882.1:p.Cys698=
ENST00000370225.3:c.2093G= ENSP00000359245.3:p.Cys698=
ENST00000472033.1:n.213G=
ENST00000536513.5:c.-65+2570G= ENSP00000439707.2:n.-65+2570G=
NM_000350.2:c.2093G= NP_000341.2:p.Cys698=
NM_000350.3:c.2093G= MANE Select NP_000341.2:p.Cys698=
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