Canonical Allele Identifier: CA226964
Gene: ABCA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 99107
dbSNP Id: rs62654395

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111546C>T , CM000663.2:g.94111546C>T GRCh38
NC_000001.10:g.94577102C>T , CM000663.1:g.94577102C>T GRCh37
NC_000001.9:g.94349690C>T NCBI36
NG_009073.1:g.14604G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.194G>A MANE Select ENSP00000359245.3:p.Gly65Glu
ENST00000649773.1:c.194G>A ENSP00000496882.1:p.Gly65Glu
ENST00000370225.3:c.194G>A ENSP00000359245.3:p.Gly65Glu
NM_000350.2:c.194G>A NP_000341.2:p.Gly65Glu
NM_000350.3:c.194G>A MANE Select NP_000341.2:p.Gly65Glu