Canonical Allele Identifier: CA1181398406
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001737C= , CM000663.2:g.94001737C= GRCh38
NC_000001.10:g.94467293C= , CM000663.1:g.94467293C= GRCh37
NC_000001.9:g.94239881C= NCBI36
NG_009073.1:g.124413G=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6282+121G= MANE Select ENSP00000359245.3:n.6282+121G=
ENST00000370225.3:c.6282+121G= ENSP00000359245.3:n.6282+121G=
ENST00000465352.1:n.819G=
ENST00000536513.5:c.2658+121G= ENSP00000439707.2:n.2658+121G=
NM_000350.2:c.6282+121G= NP_000341.2:n.6282+121G=
NM_000350.3:c.6282+121G= MANE Select NP_000341.2:n.6282+121G=
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