Canonical Allele Identifier: CA2646644810
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-93997835-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93997835C>T , CM000663.2:g.93997835C>T GRCh38
NC_000001.10:g.94463391C>T , CM000663.1:g.94463391C>T GRCh37
NC_000001.9:g.94235979C>T NCBI36
NG_009073.1:g.128315G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6729+26G>A MANE Select ENSP00000359245.3:n.6729+26G>A
ENST00000370225.3:c.6729+26G>A ENSP00000359245.3:n.6729+26G>A
ENST00000536513.5:c.3105+26G>A ENSP00000439707.2:n.3105+26G>A
NM_000350.2:c.6729+26G>A NP_000341.2:n.6729+26G>A
NM_000350.3:c.6729+26G>A MANE Select NP_000341.2:n.6729+26G>A
Search 100 bp 5'
Search 100 bp 3'