Canonical Allele Identifier: CA418826401
Gene: ABCA4 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.94544899T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94079343T>A , CM000663.2:g.94079343T>A GRCh38
NC_000001.10:g.94544899T>A , CM000663.1:g.94544899T>A GRCh37
NC_000001.9:g.94317487T>A NCBI36
NG_009073.1:g.46807A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.1218A>T MANE Select ENSP00000359245.3:p.Ala406=
ENST00000649773.1:c.1218A>T ENSP00000496882.1:p.Ala406=
ENST00000370225.3:c.1218A>T ENSP00000359245.3:p.Ala406=
NM_000350.2:c.1218A>T NP_000341.2:p.Ala406=
NM_000350.3:c.1218A>T MANE Select NP_000341.2:p.Ala406=