Canonical Allele Identifier: CA410133136

Gene: DONSON

Linked Data

• ClinVar Variation Id: 431415
• ClinVar RCV Id: RCV000496967
• dbSNP Id: rs1135401959
• MyVariant Identifiers: chr21:g.34953621A>G (hg19) ; chr21:g.33581315A>G (hg38)
• PubMed: PMID:8434992 ; PMID:28191891

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.33581315A>G , CM000683.2:g.33581315A>G	GRCh38
NC_000021.8:g.34953621A>G , CM000683.1:g.34953621A>G	GRCh37
NC_000021.7:g.33875491A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000303071.10:c.1337T>C MANE Select	ENSP00000307143.4:p.Met446Thr
ENST00000303071.9:c.1337T>C	ENSP00000307143.4:p.Met446Thr
ENST00000303113.10:c.1295T>C	ENSP00000304716.3:p.Met432Thr
ENST00000417871.5:c.*626T>C	ENSP00000392014.1:n.*626T>C
ENST00000432378.5:c.1337T>C	ENSP00000398329.1:p.Met446Thr
ENST00000437395.5:c.1249T>C
ENST00000440810.1:c.651T>C
ENST00000442660.5:c.837T>C	ENSP00000408788.1:n.837T>C
ENST00000444517.5:c.465-1753T>C	ENSP00000392405.1:n.465-1753T>C
ENST00000453626.5:c.1337T>C	ENSP00000394276.1:p.Met446Thr
ENST00000457359.5:c.*525T>C	ENSP00000415191.1:n.*525T>C
ENST00000462566.1:n.290T>C
NM_017613.3:c.1337T>C	NP_060083.1:p.Met446Thr
NM_017613.4:c.1337T>C MANE Select	NP_060083.1:p.Met446Thr