Canonical Allele Identifier: CA1181420088
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs1660485513
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041435C>A , CM000663.2:g.94041435C>A GRCh38
NC_000001.10:g.94506991C>A , CM000663.1:g.94506991C>A GRCh37
NC_000001.9:g.94279579C>A NCBI36
NG_009073.1:g.84715G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-33G>T MANE Select ENSP00000359245.3:n.3329-33G>T
ENST00000370225.3:c.3329-33G>T ENSP00000359245.3:n.3329-33G>T
ENST00000536513.5:c.-64-1346G>T ENSP00000439707.2:n.-64-1346G>T
NM_000350.2:c.3329-33G>T NP_000341.2:n.3329-33G>T
NM_000350.3:c.3329-33G>T MANE Select NP_000341.2:n.3329-33G>T
Search 100 bp 5'
Search 100 bp 3'