Canonical Allele Identifier: CA341285906
Gene: ABCA4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.94030510T>G , CM000663.2:g.94030510T>G GRCh38
NC_000001.10:g.94496066T>G , CM000663.1:g.94496066T>G GRCh37
NC_000001.9:g.94268654T>G NCBI36
NG_009073.1:g.95640A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370225.4:c.4270A>C MANE Select ENSP00000359245.3:p.Ser1424Arg
ENST00000370225.3:c.4270A>C ENSP00000359245.3:p.Ser1424Arg
ENST00000536513.5:c.646A>C ENSP00000439707.2:p.Ser216Arg
NM_000350.2:c.4270A>C NP_000341.2:p.Ser1424Arg
NM_000350.3:c.4270A>C MANE Select NP_000341.2:p.Ser1424Arg