Canonical Allele Identifier: CA1181422518
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046736C= , CM000663.2:g.94046736C= GRCh38
NC_000001.10:g.94512292C= , CM000663.1:g.94512292C= GRCh37
NC_000001.9:g.94284880C= NCBI36
NG_009073.1:g.79414G=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2918+183G= MANE Select ENSP00000359245.3:n.2918+183G=
ENST00000649773.1:c.2696+183G= ENSP00000496882.1:n.2696+183G=
ENST00000370225.3:c.2918+183G= ENSP00000359245.3:n.2918+183G=
ENST00000536513.5:c.-64-6647G= ENSP00000439707.2:n.-64-6647G=
NM_000350.2:c.2918+183G= NP_000341.2:n.2918+183G=
NM_000350.3:c.2918+183G= MANE Select NP_000341.2:n.2918+183G=
Search 100 bp 5'
Search 100 bp 3'