Canonical Allele Identifier: CA9731955

Gene: TGM6

Linked Data

• ClinVar Variation Id: 448664
• ClinVar RCV Id: RCV000517842 ; RCV001139702 ; RCV003718257
• dbSNP Id: rs762242728
• ExAC: 20:2384142 T / C
• gnomAD v2: 20-2384142-T-C
• gnomAD v3: 20-2403496-T-C
• gnomAD v4: 20-2403496-T-C
• MyVariant Identifiers: chr20:g.2384142T>C (hg19) ; chr20:g.2403496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.2403496T>C , CM000682.2:g.2403496T>C	GRCh38
NC_000020.10:g.2384142T>C , CM000682.1:g.2384142T>C	GRCh37
NC_000020.9:g.2332142T>C	NCBI36
NG_031917.1:g.27589T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000202625.7:c.1089T>C MANE Select	ENSP00000202625.2:p.Ser363=
ENST00000202625.6:c.1089T>C	ENSP00000202625.2:p.Ser363=
ENST00000381423.1:c.1089T>C	ENSP00000370831.1:p.Ser363=
NM_001254734.1:c.1089T>C	NP_001241663.1:p.Ser363=
NM_198994.2:c.1089T>C	NP_945345.2:p.Ser363=
NM_001254734.2:c.1089T>C	NP_001241663.1:p.Ser363=
NM_198994.3:c.1089T>C MANE Select	NP_945345.2:p.Ser363=