Canonical Allele Identifier: CA1181406844
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1659836136
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94019523C>T , CM000663.2:g.94019523C>T GRCh38
NC_000001.10:g.94485079C>T , CM000663.1:g.94485079C>T GRCh37
NC_000001.9:g.94257667C>T NCBI36
NG_009073.1:g.106627G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5196+59G>A MANE Select ENSP00000359245.3:n.5196+59G>A
ENST00000370225.3:c.5196+59G>A ENSP00000359245.3:n.5196+59G>A
ENST00000470771.1:n.365G>A
ENST00000536513.5:c.1572+59G>A ENSP00000439707.2:n.1572+59G>A
NM_000350.2:c.5196+59G>A NP_000341.2:n.5196+59G>A
NM_000350.3:c.5196+59G>A MANE Select NP_000341.2:n.5196+59G>A
Search 100 bp 5'
Search 100 bp 3'