Canonical Allele Identifier: CA1181402732
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007616G= , CM000663.2:g.94007616G= GRCh38
NC_000001.10:g.94473172G= , CM000663.1:g.94473172G= GRCh37
NC_000001.9:g.94245760G= NCBI36
NG_009073.1:g.118534C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6005+18C= MANE Select ENSP00000359245.3:n.6005+18C=
ENST00000370225.3:c.6005+18C= ENSP00000359245.3:n.6005+18C=
ENST00000465352.1:n.421+18C=
ENST00000484388.1:n.119+18C=
ENST00000536513.5:c.2381+18C= ENSP00000439707.2:n.2381+18C=
NM_000350.2:c.6005+18C= NP_000341.2:n.6005+18C=
NM_000350.3:c.6005+18C= MANE Select NP_000341.2:n.6005+18C=