Canonical Allele Identifier: CA418826331
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94506894G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041338G>T , CM000663.2:g.94041338G>T GRCh38
NC_000001.10:g.94506894G>T , CM000663.1:g.94506894G>T GRCh37
NC_000001.9:g.94279482G>T NCBI36
NG_009073.1:g.84812C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3393C>A MANE Select ENSP00000359245.3:p.Ala1131=
ENST00000370225.3:c.3393C>A ENSP00000359245.3:p.Ala1131=
ENST00000536513.5:c.-64-1249C>A ENSP00000439707.2:n.-64-1249C>A
NM_000350.2:c.3393C>A NP_000341.2:p.Ala1131=
NM_000350.3:c.3393C>A MANE Select NP_000341.2:p.Ala1131=