Canonical Allele Identifier: CA1140762719
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94098799G= , CM000663.2:g.94098799G= GRCh38
NC_000001.10:g.94564355G= , CM000663.1:g.94564355G= GRCh37
NC_000001.9:g.94336943G= NCBI36
NG_009073.1:g.27351C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.763C= MANE Select ENSP00000359245.3:p.Arg255=
ENST00000649773.1:c.763C= ENSP00000496882.1:p.Arg255=
ENST00000370225.3:c.763C= ENSP00000359245.3:p.Arg255=
NM_000350.2:c.763C= NP_000341.2:p.Arg255=
NM_000350.3:c.763C= MANE Select NP_000341.2:p.Arg255=