Canonical Allele Identifier: CA2646646880
Gene: ABCA4 HGNC NCBI

Linked Data

gnomAD v4: 1-94015714-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94015714T>G , CM000663.2:g.94015714T>G GRCh38
NC_000001.10:g.94481270T>G , CM000663.1:g.94481270T>G GRCh37
NC_000001.9:g.94253858T>G NCBI36
NG_009073.1:g.110436A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.5312+25A>C MANE Select ENSP00000359245.3:n.5312+25A>C
ENST00000370225.3:c.5312+25A>C ENSP00000359245.3:n.5312+25A>C
ENST00000536513.5:c.1688+25A>C ENSP00000439707.2:n.1688+25A>C
NM_000350.2:c.5312+25A>C NP_000341.2:n.5312+25A>C
NM_000350.3:c.5312+25A>C MANE Select NP_000341.2:n.5312+25A>C
Search 100 bp 5'
Search 100 bp 3'