Canonical Allele Identifier: CA341283084
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021336G>A , CM000663.2:g.94021336G>A GRCh38
NC_000001.10:g.94486892G>A , CM000663.1:g.94486892G>A GRCh37
NC_000001.9:g.94259480G>A NCBI36
NG_009073.1:g.104814C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4922C>T MANE Select ENSP00000359245.3:p.Ala1641Val
ENST00000370225.3:c.4922C>T ENSP00000359245.3:p.Ala1641Val
ENST00000460514.1:n.416C>T
ENST00000470771.1:n.32C>T
ENST00000536513.5:c.1298C>T ENSP00000439707.2:p.Ala433Val
NM_000350.2:c.4922C>T NP_000341.2:p.Ala1641Val
NM_000350.3:c.4922C>T MANE Select NP_000341.2:p.Ala1641Val