Canonical Allele Identifier: CA256464

Gene: TGM1

Linked Data

• ClinVar Variation Id: 12486
• ClinVar RCV Id: RCV000013307 ; RCV000413167 ; RCV003317033
• dbSNP Id: rs121918720
• ExAC: 14:24728305 C / G
• gnomAD v2: 14-24728305-C-G
• gnomAD v3: 14-24259099-C-G
• gnomAD v4: 14-24259099-C-G
• MyVariant Identifiers: chr14:g.24728305C>G (hg19) ; chr14:g.24259099C>G (hg38)
• PubMed: PMID:9326318

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259099C>G , CM000676.2:g.24259099C>G	GRCh38
NC_000014.8:g.24728305C>G , CM000676.1:g.24728305C>G	GRCh37
NC_000014.7:g.23798145C>G	NCBI36
NG_007150.1:g.9068G>C
NG_007150.2:g.9068G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1135G>C MANE Select	ENSP00000206765.6:p.Val379Leu
ENST00000206765.10:c.1135G>C	ENSP00000206765.6:p.Val379Leu
ENST00000544573.5:c.-28-711G>C	ENSP00000439446.1:n.-28-711G>C
ENST00000559136.1:c.208G>C	ENSP00000453337.1:p.Val70Leu
NM_000359.2:c.1135G>C	NP_000350.1:p.Val379Leu
NM_000359.3:c.1135G>C MANE Select	NP_000350.1:p.Val379Leu