Canonical Allele Identifier: CA2646648873
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94029385-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029385A>T , CM000663.2:g.94029385A>T GRCh38
NC_000001.10:g.94494941A>T , CM000663.1:g.94494941A>T GRCh37
NC_000001.9:g.94267529A>T NCBI36
NG_009073.1:g.96765T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4539+60T>A MANE Select ENSP00000359245.3:n.4539+60T>A
ENST00000370225.3:c.4539+60T>A ENSP00000359245.3:n.4539+60T>A
ENST00000536513.5:c.915+60T>A ENSP00000439707.2:n.915+60T>A
NM_000350.2:c.4539+60T>A NP_000341.2:n.4539+60T>A
NM_000350.3:c.4539+60T>A MANE Select NP_000341.2:n.4539+60T>A
Search 100 bp 5'
Search 100 bp 3'