Canonical Allele Identifier: CA341278299
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94001943C>G , CM000663.2:g.94001943C>G GRCh38
NC_000001.10:g.94467499C>G , CM000663.1:g.94467499C>G GRCh37
NC_000001.9:g.94240087C>G NCBI36
NG_009073.1:g.124207G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.6197G>C MANE Select ENSP00000359245.3:p.Cys2066Ser
ENST00000370225.3:c.6197G>C ENSP00000359245.3:p.Cys2066Ser
ENST00000465352.1:n.613G>C
ENST00000536513.5:c.2573G>C ENSP00000439707.2:p.Cys858Ser
NM_000350.2:c.6197G>C NP_000341.2:p.Cys2066Ser
NM_000350.3:c.6197G>C MANE Select NP_000341.2:p.Cys2066Ser