Canonical Allele Identifier: CA26851799
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs75845257
MyVariant Identifiers: chr1:g.94532964G>T (hg19) chr1:g.94067408G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94067408G>T , CM000663.2:g.94067408G>T GRCh38
NC_000001.10:g.94532964G>T , CM000663.1:g.94532964G>T GRCh37
NC_000001.9:g.94305552G>T NCBI36
NG_009073.1:g.58742C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.1555-4091C>A MANE Select ENSP00000359245.3:n.1555-4091C>A
ENST00000649773.1:c.1555-4091C>A ENSP00000496882.1:n.1555-4091C>A
ENST00000370225.3:c.1555-4091C>A ENSP00000359245.3:n.1555-4091C>A
NM_000350.2:c.1555-4091C>A NP_000341.2:n.1555-4091C>A
NM_000350.3:c.1555-4091C>A MANE Select NP_000341.2:n.1555-4091C>A
Search 100 bp 5'
Search 100 bp 3'