Canonical Allele Identifier: CA1181414514
Gene: ABCA4 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029382G= , CM000663.2:g.94029382G= GRCh38
NC_000001.10:g.94494938G= , CM000663.1:g.94494938G= GRCh37
NC_000001.9:g.94267526G= NCBI36
NG_009073.1:g.96768C=

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4539+63C= MANE Select ENSP00000359245.3:n.4539+63C=
ENST00000370225.3:c.4539+63C= ENSP00000359245.3:n.4539+63C=
ENST00000536513.5:c.915+63C= ENSP00000439707.2:n.915+63C=
NM_000350.2:c.4539+63C= NP_000341.2:n.4539+63C=
NM_000350.3:c.4539+63C= MANE Select NP_000341.2:n.4539+63C=
Search 100 bp 5'
Search 100 bp 3'