Canonical Allele Identifier: CA9731889

Gene: TGM6

Linked Data

• ClinVar Variation Id: 337916
• ClinVar RCV Id: RCV000343783 ; RCV000901318 ; RCV001288076
• dbSNP Id: rs202184911
• ExAC: 20:2381041 G / A
• gnomAD v2: 20-2381041-G-A
• gnomAD v3: 20-2400395-G-A
• gnomAD v4: 20-2400395-G-A
• COSMIC: COSM2887006
• MyVariant Identifiers: chr20:g.2381041G>A (hg19) ; chr20:g.2400395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2400395G>A , CM000682.2:g.2400395G>A	GRCh38
NC_000020.10:g.2381041G>A , CM000682.1:g.2381041G>A	GRCh37
NC_000020.9:g.2329041G>A	NCBI36
NG_031917.1:g.24488G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000202625.7:c.940G>A MANE Select	ENSP00000202625.2:p.Val314Met
ENST00000202625.6:c.940G>A	ENSP00000202625.2:p.Val314Met
ENST00000381423.1:c.940G>A	ENSP00000370831.1:p.Val314Met
ENST00000477505.1:n.571G>A
NM_001254734.1:c.940G>A	NP_001241663.1:p.Val314Met
NM_198994.2:c.940G>A	NP_945345.2:p.Val314Met
NM_001254734.2:c.940G>A	NP_001241663.1:p.Val314Met
NM_198994.3:c.940G>A MANE Select	NP_945345.2:p.Val314Met