Canonical Allele Identifier: CA1181403452
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008312G= , CM000663.2:g.94008312G= GRCh38
NC_000001.10:g.94473868G= , CM000663.1:g.94473868G= GRCh37
NC_000001.9:g.94246456G= NCBI36
NG_009073.1:g.117838C=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5836-15C= MANE Select ENSP00000359245.3:n.5836-15C=
ENST00000370225.3:c.5836-15C= ENSP00000359245.3:n.5836-15C=
ENST00000465352.1:n.252-15C=
ENST00000536513.5:c.2212-15C= ENSP00000439707.2:n.2212-15C=
NM_000350.2:c.5836-15C= NP_000341.2:n.5836-15C=
NM_000350.3:c.5836-15C= MANE Select NP_000341.2:n.5836-15C=
Search 100 bp 5'
Search 100 bp 3'