Canonical Allele Identifier: CA341276528
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.93998007C>G , CM000663.2:g.93998007C>G GRCh38
NC_000001.10:g.94463563C>G , CM000663.1:g.94463563C>G GRCh37
NC_000001.9:g.94236151C>G NCBI36
NG_009073.1:g.128143G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6583G>C MANE Select ENSP00000359245.3:p.Gly2195Arg
ENST00000370225.3:c.6583G>C ENSP00000359245.3:p.Gly2195Arg
ENST00000536513.5:c.2959G>C ENSP00000439707.2:p.Gly987Arg
NM_000350.2:c.6583G>C NP_000341.2:p.Gly2195Arg
NM_000350.3:c.6583G>C MANE Select NP_000341.2:p.Gly2195Arg