Canonical Allele Identifier: CA256476

Gene: TGM1

Linked Data

• ClinVar Variation Id: 12499
• ClinVar RCV Id: RCV000013322 ; RCV000795243 ; RCV002281703
• dbSNP Id: rs121918731
• ExAC: 14:24728975 G / A
• gnomAD v2: 14-24728975-G-A
• gnomAD v3: 14-24259769-G-A
• gnomAD v4: 14-24259769-G-A
• MyVariant Identifiers: chr14:g.24728975G>A (hg19) ; chr14:g.24259769G>A (hg38)
• PubMed: PMID:11407995 ; PMID:11511296

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259769G>A , CM000676.2:g.24259769G>A	GRCh38
NC_000014.8:g.24728975G>A , CM000676.1:g.24728975G>A	GRCh37
NC_000014.7:g.23798815G>A	NCBI36
NG_007150.1:g.8398C>T
NG_007150.2:g.8398C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.919C>T MANE Select	ENSP00000206765.6:p.Arg307Trp
ENST00000206765.10:c.919C>T	ENSP00000206765.6:p.Arg307Trp
ENST00000544573.5:c.-28-1381C>T	ENSP00000439446.1:n.-28-1381C>T
ENST00000559136.1:c.-9C>T	ENSP00000453337.1:n.-9C>T
NM_000359.2:c.919C>T	NP_000350.1:p.Arg307Trp
NM_000359.3:c.919C>T MANE Select	NP_000350.1:p.Arg307Trp