Canonical Allele Identifier: CA418814026
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94473827T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94008271T>G , CM000663.2:g.94008271T>G GRCh38
NC_000001.10:g.94473827T>G , CM000663.1:g.94473827T>G GRCh37
NC_000001.9:g.94246415T>G NCBI36
NG_009073.1:g.117879A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.5862A>C MANE Select ENSP00000359245.3:p.Ala1954=
ENST00000370225.3:c.5862A>C ENSP00000359245.3:p.Ala1954=
ENST00000465352.1:n.278A>C
ENST00000536513.5:c.2238A>C ENSP00000439707.2:p.Ala746=
NM_000350.2:c.5862A>C NP_000341.2:p.Ala1954=
NM_000350.3:c.5862A>C MANE Select NP_000341.2:p.Ala1954=