Canonical Allele Identifier: CA1181422702
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94047194G= , CM000663.2:g.94047194G= GRCh38
NC_000001.10:g.94512750G= , CM000663.1:g.94512750G= GRCh37
NC_000001.9:g.94285338G= NCBI36
NG_009073.1:g.78956C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.2744-101C= MANE Select ENSP00000359245.3:n.2744-101C=
ENST00000649773.1:c.2522-101C= ENSP00000496882.1:n.2522-101C=
ENST00000370225.3:c.2744-101C= ENSP00000359245.3:n.2744-101C=
ENST00000536513.5:c.-64-7105C= ENSP00000439707.2:n.-64-7105C=
NM_000350.2:c.2744-101C= NP_000341.2:n.2744-101C=
NM_000350.3:c.2744-101C= MANE Select NP_000341.2:n.2744-101C=
Search 100 bp 5'
Search 100 bp 3'