Canonical Allele Identifier: CA9732116

Gene: TGM6

Linked Data

• ClinVar Variation Id: 337929
• ClinVar RCV Id: RCV000323219
• dbSNP Id: rs764377731
• ExAC: 20:2398042 G / A
• gnomAD v2: 20-2398042-G-A
• gnomAD v4: 20-2417396-G-A
• MyVariant Identifiers: chr20:g.2398042G>A (hg19) ; chr20:g.2417396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2417396G>A , CM000682.2:g.2417396G>A	GRCh38
NC_000020.10:g.2398042G>A , CM000682.1:g.2398042G>A	GRCh37
NC_000020.9:g.2346042G>A	NCBI36
NG_031917.1:g.41489G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000202625.7:c.1501G>A MANE Select	ENSP00000202625.2:p.Val501Met
ENST00000202625.6:c.1501G>A	ENSP00000202625.2:p.Val501Met
ENST00000381423.1:c.1501G>A	ENSP00000370831.1:p.Val501Met
NM_001254734.1:c.1501G>A	NP_001241663.1:p.Val501Met
NM_198994.2:c.1501G>A	NP_945345.2:p.Val501Met
NM_001254734.2:c.1501G>A	NP_001241663.1:p.Val501Met
NM_198994.3:c.1501G>A MANE Select	NP_945345.2:p.Val501Met