Canonical Allele Identifier: CA341290432
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94041219T>C , CM000663.2:g.94041219T>C GRCh38
NC_000001.10:g.94506775T>C , CM000663.1:g.94506775T>C GRCh37
NC_000001.9:g.94279363T>C NCBI36
NG_009073.1:g.84931A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.3512A>G MANE Select ENSP00000359245.3:p.Lys1171Arg
ENST00000370225.3:c.3512A>G ENSP00000359245.3:p.Lys1171Arg
ENST00000536513.5:c.-64-1130A>G ENSP00000439707.2:n.-64-1130A>G
NM_000350.2:c.3512A>G NP_000341.2:p.Lys1171Arg
NM_000350.3:c.3512A>G MANE Select NP_000341.2:p.Lys1171Arg