Canonical Allele Identifier: CA1181402683
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659424001
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007539G>A , CM000663.2:g.94007539G>A GRCh38
NC_000001.10:g.94473095G>A , CM000663.1:g.94473095G>A GRCh37
NC_000001.9:g.94245683G>A NCBI36
NG_009073.1:g.118611C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.6005+95C>T MANE Select ENSP00000359245.3:n.6005+95C>T
ENST00000370225.3:c.6005+95C>T ENSP00000359245.3:n.6005+95C>T
ENST00000465352.1:n.421+95C>T
ENST00000484388.1:n.119+95C>T
ENST00000536513.5:c.2381+95C>T ENSP00000439707.2:n.2381+95C>T
NM_000350.2:c.6005+95C>T NP_000341.2:n.6005+95C>T
NM_000350.3:c.6005+95C>T MANE Select NP_000341.2:n.6005+95C>T
Search 100 bp 5'
Search 100 bp 3'