Canonical Allele Identifier: CA2646645476
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94002107-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94002107G>T , CM000663.2:g.94002107G>T GRCh38
NC_000001.10:g.94467663G>T , CM000663.1:g.94467663G>T GRCh37
NC_000001.9:g.94240251G>T NCBI36
NG_009073.1:g.124043C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6148-115C>A MANE Select ENSP00000359245.3:n.6148-115C>A
ENST00000370225.3:c.6148-115C>A ENSP00000359245.3:n.6148-115C>A
ENST00000465352.1:n.564-115C>A
ENST00000536513.5:c.2524-115C>A ENSP00000439707.2:n.2524-115C>A
NM_000350.2:c.6148-115C>A NP_000341.2:n.6148-115C>A
NM_000350.3:c.6148-115C>A MANE Select NP_000341.2:n.6148-115C>A
Search 100 bp 5'
Search 100 bp 3'