Canonical Allele Identifier: CA341277512
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001043G>T , CM000663.2:g.94001043G>T GRCh38
NC_000001.10:g.94466599G>T , CM000663.1:g.94466599G>T GRCh37
NC_000001.9:g.94239187G>T NCBI36
NG_009073.1:g.125107C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6345C>A MANE Select ENSP00000359245.3:p.Ser2115Arg
ENST00000370225.3:c.6345C>A ENSP00000359245.3:p.Ser2115Arg
ENST00000536513.5:c.2721C>A ENSP00000439707.2:p.Ser907Arg
NM_000350.2:c.6345C>A NP_000341.2:p.Ser2115Arg
NM_000350.3:c.6345C>A MANE Select NP_000341.2:p.Ser2115Arg