Canonical Allele Identifier: CA261151

Gene: TGM1

Linked Data

• ClinVar Variation Id: 39529
• ClinVar RCV Id: RCV000032727 ; RCV001852657 ; RCV003317052
• dbSNP Id: rs397514525
• gnomAD v2: 14-24728951-G-A
• gnomAD v4: 14-24259745-G-A
• MyVariant Identifiers: chr14:g.24728951G>A (hg19) ; chr14:g.24259745G>A (hg38)
• PubMed: PMID:16968736 ; PMID:19212342

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259745G>A , CM000676.2:g.24259745G>A	GRCh38
NC_000014.8:g.24728951G>A , CM000676.1:g.24728951G>A	GRCh37
NC_000014.7:g.23798791G>A	NCBI36
NG_007150.1:g.8422C>T
NG_007150.2:g.8422C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.943C>T MANE Select	ENSP00000206765.6:p.Arg315Cys
ENST00000206765.10:c.943C>T	ENSP00000206765.6:p.Arg315Cys
ENST00000544573.5:c.-28-1357C>T	ENSP00000439446.1:n.-28-1357C>T
ENST00000559136.1:c.16C>T	ENSP00000453337.1:p.Arg6Cys
NM_000359.2:c.943C>T	NP_000350.1:p.Arg315Cys
NM_000359.3:c.943C>T MANE Select	NP_000350.1:p.Arg315Cys