Canonical Allele Identifier: CA1181422522
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046740A= , CM000663.2:g.94046740A= GRCh38
NC_000001.10:g.94512296A= , CM000663.1:g.94512296A= GRCh37
NC_000001.9:g.94284884A= NCBI36
NG_009073.1:g.79410T=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2918+179T= MANE Select ENSP00000359245.3:n.2918+179T=
ENST00000649773.1:c.2696+179T= ENSP00000496882.1:n.2696+179T=
ENST00000370225.3:c.2918+179T= ENSP00000359245.3:n.2918+179T=
ENST00000536513.5:c.-64-6651T= ENSP00000439707.2:n.-64-6651T=
NM_000350.2:c.2918+179T= NP_000341.2:n.2918+179T=
NM_000350.3:c.2918+179T= MANE Select NP_000341.2:n.2918+179T=
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