Canonical Allele Identifier: CA1181422722
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047232T= , CM000663.2:g.94047232T= GRCh38
NC_000001.10:g.94512788T= , CM000663.1:g.94512788T= GRCh37
NC_000001.9:g.94285376T= NCBI36
NG_009073.1:g.78918A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2744-139A= MANE Select ENSP00000359245.3:n.2744-139A=
ENST00000649773.1:c.2522-139A= ENSP00000496882.1:n.2522-139A=
ENST00000370225.3:c.2744-139A= ENSP00000359245.3:n.2744-139A=
ENST00000536513.5:c.-64-7143A= ENSP00000439707.2:n.-64-7143A=
NM_000350.2:c.2744-139A= NP_000341.2:n.2744-139A=
NM_000350.3:c.2744-139A= MANE Select NP_000341.2:n.2744-139A=