Canonical Allele Identifier: CA2646647639
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94021130-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021130C>A , CM000663.2:g.94021130C>A GRCh38
NC_000001.10:g.94486686C>A , CM000663.1:g.94486686C>A GRCh37
NC_000001.9:g.94259274C>A NCBI36
NG_009073.1:g.105020G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5018+110G>T MANE Select ENSP00000359245.3:n.5018+110G>T
ENST00000370225.3:c.5018+110G>T ENSP00000359245.3:n.5018+110G>T
ENST00000460514.1:n.512+110G>T
ENST00000470771.1:n.128+110G>T
ENST00000536513.5:c.1394+110G>T ENSP00000439707.2:n.1394+110G>T
NM_000350.2:c.5018+110G>T NP_000341.2:n.5018+110G>T
NM_000350.3:c.5018+110G>T MANE Select NP_000341.2:n.5018+110G>T
Search 100 bp 5'
Search 100 bp 3'