Canonical Allele Identifier: CA9732274

Gene: TGM6

Linked Data

• ClinVar Variation Id: 337940
• ClinVar RCV Id: RCV000299373 ; RCV000889940 ; RCV001660704
• dbSNP Id: rs138807504
• ExAC: 20:2413163 G / C
• gnomAD v2: 20-2413163-G-C
• gnomAD v3: 20-2432517-G-C
• gnomAD v4: 20-2432517-G-C
• MyVariant Identifiers: chr20:g.2413163G>C (hg19) ; chr20:g.2432517G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2432517G>C , CM000682.2:g.2432517G>C	GRCh38
NC_000020.10:g.2413163G>C , CM000682.1:g.2413163G>C	GRCh37
NC_000020.9:g.2361163G>C	NCBI36
NG_031917.1:g.56610G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000202625.7:c.1995G>C MANE Select	ENSP00000202625.2:p.Arg665Ser
ENST00000202625.6:c.1995G>C	ENSP00000202625.2:p.Arg665Ser
ENST00000381423.1:c.1861G>C	ENSP00000370831.1:p.Gly621Arg
NM_001254734.1:c.1861G>C	NP_001241663.1:p.Gly621Arg
NM_198994.2:c.1995G>C	NP_945345.2:p.Arg665Ser
NM_001254734.2:c.1861G>C	NP_001241663.1:p.Gly621Arg
NM_198994.3:c.1995G>C MANE Select	NP_945345.2:p.Arg665Ser