Canonical Allele Identifier: CA1181428055
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94060661T= , CM000663.2:g.94060661T= GRCh38
NC_000001.10:g.94526217T= , CM000663.1:g.94526217T= GRCh37
NC_000001.9:g.94298805T= NCBI36
NG_009073.1:g.65489A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2036A= MANE Select ENSP00000359245.3:p.Glu679=
ENST00000649773.1:c.2036A= ENSP00000496882.1:p.Glu679=
ENST00000370225.3:c.2036A= ENSP00000359245.3:p.Glu679=
ENST00000472033.1:n.156A=
ENST00000536513.5:c.-65+2513A= ENSP00000439707.2:n.-65+2513A=
NM_000350.2:c.2036A= NP_000341.2:p.Glu679=
NM_000350.3:c.2036A= MANE Select NP_000341.2:p.Glu679=
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