Canonical Allele Identifier: CA418812452
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94467543T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001987T>C , CM000663.2:g.94001987T>C GRCh38
NC_000001.10:g.94467543T>C , CM000663.1:g.94467543T>C GRCh37
NC_000001.9:g.94240131T>C NCBI36
NG_009073.1:g.124163A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6153A>G MANE Select ENSP00000359245.3:p.Ala2051=
ENST00000370225.3:c.6153A>G ENSP00000359245.3:p.Ala2051=
ENST00000465352.1:n.569A>G
ENST00000536513.5:c.2529A>G ENSP00000439707.2:p.Ala843=
NM_000350.2:c.6153A>G NP_000341.2:p.Ala2051=
NM_000350.3:c.6153A>G MANE Select NP_000341.2:p.Ala2051=