Canonical Allele Identifier: CA1181420143
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041604T= , CM000663.2:g.94041604T= GRCh38
NC_000001.10:g.94507160T= , CM000663.1:g.94507160T= GRCh37
NC_000001.9:g.94279748T= NCBI36
NG_009073.1:g.84546A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3329-202A= MANE Select ENSP00000359245.3:n.3329-202A=
ENST00000370225.3:c.3329-202A= ENSP00000359245.3:n.3329-202A=
ENST00000536513.5:c.-64-1515A= ENSP00000439707.2:n.-64-1515A=
NM_000350.2:c.3329-202A= NP_000341.2:n.3329-202A=
NM_000350.3:c.3329-202A= MANE Select NP_000341.2:n.3329-202A=