Canonical Allele Identifier: CA1147304793
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047208G= , CM000663.2:g.94047208G= GRCh38
NC_000001.10:g.94512764G= , CM000663.1:g.94512764G= GRCh37
NC_000001.9:g.94285352G= NCBI36
NG_009073.1:g.78942C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2744-115C= MANE Select ENSP00000359245.3:n.2744-115C=
ENST00000649773.1:c.2522-115C= ENSP00000496882.1:n.2522-115C=
ENST00000370225.3:c.2744-115C= ENSP00000359245.3:n.2744-115C=
ENST00000536513.5:c.-64-7119C= ENSP00000439707.2:n.-64-7119C=
NM_000350.2:c.2744-115C= NP_000341.2:n.2744-115C=
NM_000350.3:c.2744-115C= MANE Select NP_000341.2:n.2744-115C=
Search 100 bp 5'
Search 100 bp 3'