Canonical Allele Identifier: CA1181420124
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041540T= , CM000663.2:g.94041540T= GRCh38
NC_000001.10:g.94507096T= , CM000663.1:g.94507096T= GRCh37
NC_000001.9:g.94279684T= NCBI36
NG_009073.1:g.84610A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-138A= MANE Select ENSP00000359245.3:n.3329-138A=
ENST00000370225.3:c.3329-138A= ENSP00000359245.3:n.3329-138A=
ENST00000536513.5:c.-64-1451A= ENSP00000439707.2:n.-64-1451A=
NM_000350.2:c.3329-138A= NP_000341.2:n.3329-138A=
NM_000350.3:c.3329-138A= MANE Select NP_000341.2:n.3329-138A=