Canonical Allele Identifier: CA118623

Gene: MAPKAPK3

Linked Data

• ClinVar Variation Id: 7091
• ClinVar RCV Id: RCV000007507 ; RCV000007508 ; RCV000023195
• dbSNP Id: rs414171
• gnomAD v2: 3-50649499-A-T
• gnomAD v3: 3-50612068-A-T
• gnomAD v4: 3-50612068-A-T
• MyVariant Identifiers: chr3:g.50649499A>T (hg19) ; chr3:g.50612068A>T (hg38)
• PubMed: PMID:20484391

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50612068A>T , CM000665.2:g.50612068A>T	GRCh38
NC_000003.11:g.50649499A>T , CM000665.1:g.50649499A>T	GRCh37
NC_000003.10:g.50624503A>T	NCBI36
NG_023194.1:g.4764T>A
NG_051548.1:g.5207A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446044.5:c.-436A>T	ENSP00000396467.1:n.-436A>T
ENST00000486712.5:n.293A>T
NM_001243926.1:c.-436A>T	NP_001230855.1:n.-436A>T
NM_001243926.2:c.-436A>T	NP_001230855.1:n.-436A>T