Canonical Allele Identifier: CA256463

Gene: TGM1

Linked Data

• ClinVar Variation Id: 12485
• ClinVar RCV Id: RCV000013304 ; RCV001055476 ; RCV001813977 ; RCV003398494
• dbSNP Id: rs121918718
• ExAC: 14:24730984 C / T
• gnomAD v2: 14-24730984-C-T
• gnomAD v3: 14-24261778-C-T
• gnomAD v4: 14-24261778-C-T
• MyVariant Identifiers: chr14:g.24730984C>T (hg19) ; chr14:g.24261778C>T (hg38)
• PubMed: PMID:7773290 ; PMID:9326318

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24261778C>T , CM000676.2:g.24261778C>T	GRCh38
NC_000014.8:g.24730984C>T , CM000676.1:g.24730984C>T	GRCh37
NC_000014.7:g.23800824C>T	NCBI36
NG_007150.1:g.6389G>A
NG_007150.2:g.6389G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.425G>A MANE Select	ENSP00000206765.6:p.Arg142His
ENST00000206765.10:c.425G>A	ENSP00000206765.6:p.Arg142His
ENST00000544573.5:c.-29+349G>A	ENSP00000439446.1:n.-29+349G>A
NM_000359.2:c.425G>A	NP_000350.1:p.Arg142His
NM_000359.3:c.425G>A MANE Select	NP_000350.1:p.Arg142His