Canonical Allele Identifier: CA1181419984
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041153C= , CM000663.2:g.94041153C= GRCh38
NC_000001.10:g.94506709C= , CM000663.1:g.94506709C= GRCh37
NC_000001.9:g.94279297C= NCBI36
NG_009073.1:g.84997G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3522+56G= MANE Select ENSP00000359245.3:n.3522+56G=
ENST00000370225.3:c.3522+56G= ENSP00000359245.3:n.3522+56G=
ENST00000536513.5:c.-64-1064G= ENSP00000439707.2:n.-64-1064G=
NM_000350.2:c.3522+56G= NP_000341.2:n.3522+56G=
NM_000350.3:c.3522+56G= MANE Select NP_000341.2:n.3522+56G=