Canonical Allele Identifier: CA341284835
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94495039C>T (hg19) chr1:g.94029483C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94029483C>T , CM000663.2:g.94029483C>T GRCh38
NC_000001.10:g.94495039C>T , CM000663.1:g.94495039C>T GRCh37
NC_000001.9:g.94267627C>T NCBI36
NG_009073.1:g.96667G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.4501G>A MANE Select ENSP00000359245.3:p.Glu1501Lys
ENST00000370225.3:c.4501G>A ENSP00000359245.3:p.Glu1501Lys
ENST00000536513.5:c.877G>A ENSP00000439707.2:p.Glu293Lys
NM_000350.2:c.4501G>A NP_000341.2:p.Glu1501Lys
NM_000350.3:c.4501G>A MANE Select NP_000341.2:p.Glu1501Lys
Search 100 bp 5'
Search 100 bp 3'