Canonical Allele Identifier: CA7131226

Gene: TGM1

Linked Data

• ClinVar Variation Id: 449108
• ClinVar RCV Id: RCV000521059 ; RCV000671220 ; RCV002271520
• dbSNP Id: rs771820315
• ExAC: 14:24728927 G / A
• gnomAD v2: 14-24728927-G-A
• gnomAD v4: 14-24259721-G-A
• MyVariant Identifiers: chr14:g.24728927G>A (hg19) ; chr14:g.24259721G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259721G>A , CM000676.2:g.24259721G>A	GRCh38
NC_000014.8:g.24728927G>A , CM000676.1:g.24728927G>A	GRCh37
NC_000014.7:g.23798767G>A	NCBI36
NG_007150.1:g.8446C>T
NG_007150.2:g.8446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.967C>T MANE Select	ENSP00000206765.6:p.Arg323Trp
ENST00000206765.10:c.967C>T	ENSP00000206765.6:p.Arg323Trp
ENST00000544573.5:c.-28-1333C>T	ENSP00000439446.1:n.-28-1333C>T
ENST00000559136.1:c.40C>T	ENSP00000453337.1:p.Arg14Trp
NM_000359.2:c.967C>T	NP_000350.1:p.Arg323Trp
NM_000359.3:c.967C>T MANE Select	NP_000350.1:p.Arg323Trp