Canonical Allele Identifier: CA9731796

Gene: TGM6

Linked Data

• ClinVar Variation Id: 337909
• ClinVar RCV Id: RCV000279869 ; RCV000518244 ; RCV003765966
• dbSNP Id: rs202245813
• ExAC: 20:2380261 G / A
• gnomAD v2: 20-2380261-G-A
• gnomAD v3: 20-2399615-G-A
• gnomAD v4: 20-2399615-G-A
• MyVariant Identifiers: chr20:g.2380261G>A (hg19) ; chr20:g.2399615G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2399615G>A , CM000682.2:g.2399615G>A	GRCh38
NC_000020.10:g.2380261G>A , CM000682.1:g.2380261G>A	GRCh37
NC_000020.9:g.2328261G>A	NCBI36
NG_031917.1:g.23708G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000202625.7:c.727G>A MANE Select	ENSP00000202625.2:p.Gly243Ser
ENST00000202625.6:c.727G>A	ENSP00000202625.2:p.Gly243Ser
ENST00000381423.1:c.727G>A	ENSP00000370831.1:p.Gly243Ser
ENST00000477505.1:n.358G>A
NM_001254734.1:c.727G>A	NP_001241663.1:p.Gly243Ser
NM_198994.2:c.727G>A	NP_945345.2:p.Gly243Ser
NM_001254734.2:c.727G>A	NP_001241663.1:p.Gly243Ser
NM_198994.3:c.727G>A MANE Select	NP_945345.2:p.Gly243Ser