Canonical Allele Identifier: CA1181398493
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001850G= , CM000663.2:g.94001850G= GRCh38
NC_000001.10:g.94467406G= , CM000663.1:g.94467406G= GRCh37
NC_000001.9:g.94239994G= NCBI36
NG_009073.1:g.124300C=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6282+8C= MANE Select ENSP00000359245.3:n.6282+8C=
ENST00000370225.3:c.6282+8C= ENSP00000359245.3:n.6282+8C=
ENST00000465352.1:n.706C=
ENST00000536513.5:c.2658+8C= ENSP00000439707.2:n.2658+8C=
NM_000350.2:c.6282+8C= NP_000341.2:n.6282+8C=
NM_000350.3:c.6282+8C= MANE Select NP_000341.2:n.6282+8C=
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