Canonical Allele Identifier: CA341275332
Gene: ABCA4 HGNC NCBI

Linked Data

dbSNP Id: rs61749449

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94046944T>A , CM000663.2:g.94046944T>A GRCh38
NC_000001.10:g.94512500T>A , CM000663.1:g.94512500T>A GRCh37
NC_000001.9:g.94285088T>A NCBI36
NG_009073.1:g.79206A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370225.4:c.2893A>T MANE Select ENSP00000359245.3:p.Asn965Tyr
ENST00000649773.1:c.2671A>T ENSP00000496882.1:p.Asn891Tyr
ENST00000370225.3:c.2893A>T ENSP00000359245.3:p.Asn965Tyr
ENST00000536513.5:c.-64-6855A>T ENSP00000439707.2:n.-64-6855A>T
NM_000350.2:c.2893A>T NP_000341.2:p.Asn965Tyr
NM_000350.3:c.2893A>T MANE Select NP_000341.2:p.Asn965Tyr