Canonical Allele Identifier: CA9731833

Gene: TGM6

Linked Data

• ClinVar Variation Id: 337913
• ClinVar RCV Id: RCV000340921 ; RCV001289338 ; RCV002520003
• dbSNP Id: rs375595045
• ExAC: 20:2380369 G / A
• gnomAD v2: 20-2380369-G-A
• gnomAD v3: 20-2399723-G-A
• gnomAD v4: 20-2399723-G-A
• MyVariant Identifiers: chr20:g.2380369G>A (hg19) ; chr20:g.2399723G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2399723G>A , CM000682.2:g.2399723G>A	GRCh38
NC_000020.10:g.2380369G>A , CM000682.1:g.2380369G>A	GRCh37
NC_000020.9:g.2328369G>A	NCBI36
NG_031917.1:g.23816G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000202625.7:c.835G>A MANE Select	ENSP00000202625.2:p.Gly279Arg
ENST00000202625.6:c.835G>A	ENSP00000202625.2:p.Gly279Arg
ENST00000381423.1:c.835G>A	ENSP00000370831.1:p.Gly279Arg
ENST00000477505.1:n.466G>A
NM_001254734.1:c.835G>A	NP_001241663.1:p.Gly279Arg
NM_198994.2:c.835G>A	NP_945345.2:p.Gly279Arg
NM_001254734.2:c.835G>A	NP_001241663.1:p.Gly279Arg
NM_198994.3:c.835G>A MANE Select	NP_945345.2:p.Gly279Arg