Canonical Allele Identifier: CA256468

Gene: TGM1

Linked Data

• ClinVar Variation Id: 12491
• ClinVar RCV Id: RCV000013313 ; RCV001857339 ; RCV003226158
• dbSNP Id: rs121918724
• ExAC: 14:24725217 T / C
• gnomAD v2: 14-24725217-T-C
• gnomAD v3: 14-24256011-T-C
• gnomAD v4: 14-24256011-T-C
• MyVariant Identifiers: chr14:g.24725217T>C (hg19) ; chr14:g.24256011T>C (hg38)
• PubMed: PMID:12542526

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24256011T>C , CM000676.2:g.24256011T>C	GRCh38
NC_000014.8:g.24725217T>C , CM000676.1:g.24725217T>C	GRCh37
NC_000014.7:g.23795057T>C	NCBI36
NG_007150.1:g.12156A>G
NG_007150.2:g.12156A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1469A>G MANE Select	ENSP00000206765.6:p.Asp490Gly
ENST00000206765.10:c.1469A>G	ENSP00000206765.6:p.Asp490Gly
ENST00000544573.5:c.143A>G	ENSP00000439446.1:p.Asp48Gly
ENST00000559136.1:c.542A>G	ENSP00000453337.1:p.Asp181Gly
NM_000359.2:c.1469A>G	NP_000350.1:p.Asp490Gly
NM_000359.3:c.1469A>G MANE Select	NP_000350.1:p.Asp490Gly