Canonical Allele Identifier: CA2646645407
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94001752-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001752C>T , CM000663.2:g.94001752C>T GRCh38
NC_000001.10:g.94467308C>T , CM000663.1:g.94467308C>T GRCh37
NC_000001.9:g.94239896C>T NCBI36
NG_009073.1:g.124398G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6282+106G>A MANE Select ENSP00000359245.3:n.6282+106G>A
ENST00000370225.3:c.6282+106G>A ENSP00000359245.3:n.6282+106G>A
ENST00000465352.1:n.804G>A
ENST00000536513.5:c.2658+106G>A ENSP00000439707.2:n.2658+106G>A
NM_000350.2:c.6282+106G>A NP_000341.2:n.6282+106G>A
NM_000350.3:c.6282+106G>A MANE Select NP_000341.2:n.6282+106G>A
Search 100 bp 5'
Search 100 bp 3'