Canonical Allele Identifier: CA1181422667
Gene: ABCA4 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047120G= , CM000663.2:g.94047120G= GRCh38
NC_000001.10:g.94512676G= , CM000663.1:g.94512676G= GRCh37
NC_000001.9:g.94285264G= NCBI36
NG_009073.1:g.79030C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2744-27C= MANE Select ENSP00000359245.3:n.2744-27C=
ENST00000649773.1:c.2522-27C= ENSP00000496882.1:n.2522-27C=
ENST00000370225.3:c.2744-27C= ENSP00000359245.3:n.2744-27C=
ENST00000536513.5:c.-64-7031C= ENSP00000439707.2:n.-64-7031C=
NM_000350.2:c.2744-27C= NP_000341.2:n.2744-27C=
NM_000350.3:c.2744-27C= MANE Select NP_000341.2:n.2744-27C=
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