Canonical Allele Identifier: CA341279352
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94007637T>A , CM000663.2:g.94007637T>A GRCh38
NC_000001.10:g.94473193T>A , CM000663.1:g.94473193T>A GRCh37
NC_000001.9:g.94245781T>A NCBI36
NG_009073.1:g.118513A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6002A>T MANE Select ENSP00000359245.3:p.Lys2001Met
ENST00000370225.3:c.6002A>T ENSP00000359245.3:p.Lys2001Met
ENST00000465352.1:n.418A>T
ENST00000484388.1:n.116A>T
ENST00000536513.5:c.2378A>T ENSP00000439707.2:p.Lys793Met
NM_000350.2:c.6002A>T NP_000341.2:p.Lys2001Met
NM_000350.3:c.6002A>T MANE Select NP_000341.2:p.Lys2001Met