Canonical Allele Identifier: CA341283083
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94021334T>G , CM000663.2:g.94021334T>G GRCh38
NC_000001.10:g.94486890T>G , CM000663.1:g.94486890T>G GRCh37
NC_000001.9:g.94259478T>G NCBI36
NG_009073.1:g.104816A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4924A>C MANE Select ENSP00000359245.3:p.Ser1642Arg
ENST00000370225.3:c.4924A>C ENSP00000359245.3:p.Ser1642Arg
ENST00000460514.1:n.418A>C
ENST00000470771.1:n.34A>C
ENST00000536513.5:c.1300A>C ENSP00000439707.2:p.Ser434Arg
NM_000350.2:c.4924A>C NP_000341.2:p.Ser1642Arg
NM_000350.3:c.4924A>C MANE Select NP_000341.2:p.Ser1642Arg