Canonical Allele Identifier: CA261153

Gene: TGM1

Linked Data

• ClinVar Variation Id: 39531
• ClinVar RCV Id: RCV000032729 ; RCV000413918 ; RCV003904883
• dbSNP Id: rs143473912
• ExAC: 14:24728950 C / A
• gnomAD v2: 14-24728950-C-A
• gnomAD v3: 14-24259744-C-A
• gnomAD v4: 14-24259744-C-A
• MyVariant Identifiers: chr14:g.24728950C>A (hg19) ; chr14:g.24259744C>A (hg38)
• PubMed: PMID:10232404 ; PMID:16280294 ; PMID:16977323 ; PMID:19863506

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259744C>A , CM000676.2:g.24259744C>A	GRCh38
NC_000014.8:g.24728950C>A , CM000676.1:g.24728950C>A	GRCh37
NC_000014.7:g.23798790C>A	NCBI36
NG_007150.1:g.8423G>T
NG_007150.2:g.8423G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000206765.11:c.944G>T MANE Select	ENSP00000206765.6:p.Arg315Leu
ENST00000206765.10:c.944G>T	ENSP00000206765.6:p.Arg315Leu
ENST00000544573.5:c.-28-1356G>T	ENSP00000439446.1:n.-28-1356G>T
ENST00000559136.1:c.17G>T	ENSP00000453337.1:p.Arg6Leu
NM_000359.2:c.944G>T	NP_000350.1:p.Arg315Leu
NM_000359.3:c.944G>T MANE Select	NP_000350.1:p.Arg315Leu