Canonical Allele Identifier: CA1181447864
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94111659G= , CM000663.2:g.94111659G= GRCh38
NC_000001.10:g.94577215G= , CM000663.1:g.94577215G= GRCh37
NC_000001.9:g.94349803G= NCBI36
NG_009073.1:g.14491C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.161-80C= MANE Select ENSP00000359245.3:n.161-80C=
ENST00000649773.1:c.161-80C= ENSP00000496882.1:n.161-80C=
ENST00000370225.3:c.161-80C= ENSP00000359245.3:n.161-80C=
NM_000350.2:c.161-80C= NP_000341.2:n.161-80C=
NM_000350.3:c.161-80C= MANE Select NP_000341.2:n.161-80C=