Canonical Allele Identifier: CA1181420866
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94043318C= , CM000663.2:g.94043318C= GRCh38
NC_000001.10:g.94508874C= , CM000663.1:g.94508874C= GRCh37
NC_000001.9:g.94281462C= NCBI36
NG_009073.1:g.82832G=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.3190+18G= MANE Select ENSP00000359245.3:n.3190+18G=
ENST00000370225.3:c.3190+18G= ENSP00000359245.3:n.3190+18G=
ENST00000536513.5:c.-64-3229G= ENSP00000439707.2:n.-64-3229G=
NM_000350.2:c.3190+18G= NP_000341.2:n.3190+18G=
NM_000350.3:c.3190+18G= MANE Select NP_000341.2:n.3190+18G=
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