Canonical Allele Identifier: CA1140762681
Gene: ABCA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001927G= , CM000663.2:g.94001927G= GRCh38
NC_000001.10:g.94467483G= , CM000663.1:g.94467483G= GRCh37
NC_000001.9:g.94240071G= NCBI36
NG_009073.1:g.124223C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6213C= MANE Select ENSP00000359245.3:p.Tyr2071=
ENST00000370225.3:c.6213C= ENSP00000359245.3:p.Tyr2071=
ENST00000465352.1:n.629C=
ENST00000536513.5:c.2589C= ENSP00000439707.2:p.Tyr863=
NM_000350.2:c.6213C= NP_000341.2:p.Tyr2071=
NM_000350.3:c.6213C= MANE Select NP_000341.2:p.Tyr2071=