Canonical Allele Identifier: CA10010677
Gene: DONSON HGNC NCBI

Linked Data

ClinVar Variation Id: 431446
ClinVar RCV Id: RCV000623846 RCV000626267 RCV001856993 RCV002470886
dbSNP Id: rs768071555
ExAC: 21:34960866 T / G
gnomAD v2: 21-34960866-T-G
gnomAD v3: 21-33588560-T-G
gnomAD v4: 21-33588560-T-G
COSMIC: COSM4986509
MyVariant Identifiers: chr21:g.34960866T>G (hg19) chr21:g.33588560T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.33588560T>G , CM000683.2:g.33588560T>G GRCh38
NC_000021.8:g.34960866T>G , CM000683.1:g.34960866T>G GRCh37
NC_000021.7:g.33882736T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000303071.10:c.82A>C MANE Select ENSP00000307143.4:p.Ser28Arg
ENST00000303071.9:c.82A>C ENSP00000307143.4:p.Ser28Arg
ENST00000303113.10:c.82A>C ENSP00000304716.3:p.Ser28Arg
ENST00000417871.5:c.82A>C ENSP00000392014.1:p.Ser28Arg
ENST00000429238.2:c.442-2379A>C ENSP00000394107.2:n.442-2379A>C
ENST00000432378.5:c.82A>C ENSP00000398329.1:p.Ser28Arg
ENST00000437395.5:c.75A>C
ENST00000453626.5:c.82A>C ENSP00000394276.1:p.Ser28Arg
ENST00000457359.5:c.82A>C ENSP00000415191.1:p.Ser28Arg
NM_017613.3:c.82A>C NP_060083.1:p.Ser28Arg
NM_017613.4:c.82A>C MANE Select NP_060083.1:p.Ser28Arg
Search 100 bp 5'
Search 100 bp 3'