Canonical Allele Identifier: CA1181415419
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94031781C= , CM000663.2:g.94031781C= GRCh38
NC_000001.10:g.94497337C= , CM000663.1:g.94497337C= GRCh37
NC_000001.9:g.94269925C= NCBI36
NG_009073.1:g.94369G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4125G= MANE Select ENSP00000359245.3:p.Ala1375=
ENST00000370225.3:c.4125G= ENSP00000359245.3:p.Ala1375=
ENST00000536513.5:c.501G= ENSP00000439707.2:p.Ala167=
NM_000350.2:c.4125G= NP_000341.2:p.Ala1375=
NM_000350.3:c.4125G= MANE Select NP_000341.2:p.Ala1375=