Canonical Allele Identifier: CA1145618261
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93998106C= , CM000663.2:g.93998106C= GRCh38
NC_000001.10:g.94463662C= , CM000663.1:g.94463662C= GRCh37
NC_000001.9:g.94236250C= NCBI36
NG_009073.1:g.128044G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6484G= MANE Select ENSP00000359245.3:p.Gly2162=
ENST00000370225.3:c.6484G= ENSP00000359245.3:p.Gly2162=
ENST00000536513.5:c.2860G= ENSP00000439707.2:p.Gly954=
NM_000350.2:c.6484G= NP_000341.2:p.Gly2162=
NM_000350.3:c.6484G= MANE Select NP_000341.2:p.Gly2162=