Canonical Allele Identifier: CA7131282

Gene: TGM1

Linked Data

• ClinVar Variation Id: 312984
• ClinVar RCV Id: RCV000320209 ; RCV001046072 ; RCV003323509
• dbSNP Id: rs781006633
• ExAC: 14:24729231 C / T
• gnomAD v2: 14-24729231-C-T
• gnomAD v3: 14-24260025-C-T
• gnomAD v4: 14-24260025-C-T
• MyVariant Identifiers: chr14:g.24729231C>T (hg19) ; chr14:g.24260025C>T (hg38)
• PubMed: PMID:16968736 ; PMID:19212342 ; PMID:19241467 ; PMID:25180191

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24260025C>T , CM000676.2:g.24260025C>T	GRCh38
NC_000014.8:g.24729231C>T , CM000676.1:g.24729231C>T	GRCh37
NC_000014.7:g.23799071C>T	NCBI36
NG_007150.1:g.8142G>A
NG_007150.2:g.8142G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.791G>A MANE Select	ENSP00000206765.6:p.Arg264Gln
ENST00000206765.10:c.791G>A	ENSP00000206765.6:p.Arg264Gln
ENST00000544573.5:c.-28-1637G>A	ENSP00000439446.1:n.-28-1637G>A
ENST00000559136.1:c.-137G>A	ENSP00000453337.1:n.-137G>A
NM_000359.2:c.791G>A	NP_000350.1:p.Arg264Gln
NM_000359.3:c.791G>A MANE Select	NP_000350.1:p.Arg264Gln