Canonical Allele Identifier: CA2646649823
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94046777-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046777A>T , CM000663.2:g.94046777A>T GRCh38
NC_000001.10:g.94512333A>T , CM000663.1:g.94512333A>T GRCh37
NC_000001.9:g.94284921A>T NCBI36
NG_009073.1:g.79373T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2918+142T>A MANE Select ENSP00000359245.3:n.2918+142T>A
ENST00000649773.1:c.2696+142T>A ENSP00000496882.1:n.2696+142T>A
ENST00000370225.3:c.2918+142T>A ENSP00000359245.3:n.2918+142T>A
ENST00000536513.5:c.-64-6688T>A ENSP00000439707.2:n.-64-6688T>A
NM_000350.2:c.2918+142T>A NP_000341.2:n.2918+142T>A
NM_000350.3:c.2918+142T>A MANE Select NP_000341.2:n.2918+142T>A
Search 100 bp 5'
Search 100 bp 3'