Canonical Allele Identifier: CA256461

Gene: TGM1

Linked Data

• ClinVar Variation Id: 12483
• ClinVar RCV Id: RCV000013301 ; RCV000807794 ; RCV001778651
• dbSNP Id: rs121918716
• ExAC: 14:24730985 G / A
• gnomAD v3: 14-24261779-G-A
• gnomAD v4: 14-24261779-G-A
• MyVariant Identifiers: chr14:g.24730985G>A (hg19) ; chr14:g.24261779G>A (hg38)
• PubMed: PMID:7824952 ; PMID:9326318

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24261779G>A , CM000676.2:g.24261779G>A	GRCh38
NC_000014.8:g.24730985G>A , CM000676.1:g.24730985G>A	GRCh37
NC_000014.7:g.23800825G>A	NCBI36
NG_007150.1:g.6388C>T
NG_007150.2:g.6388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.424C>T MANE Select	ENSP00000206765.6:p.Arg142Cys
ENST00000206765.10:c.424C>T	ENSP00000206765.6:p.Arg142Cys
ENST00000544573.5:c.-29+348C>T	ENSP00000439446.1:n.-29+348C>T
NM_000359.2:c.424C>T	NP_000350.1:p.Arg142Cys
NM_000359.3:c.424C>T MANE Select	NP_000350.1:p.Arg142Cys