Canonical Allele Identifier: CA389264663

Gene: TGM1

Linked Data

• ClinVar Variation Id: 3008283
• ClinVar RCV Id: RCV003866946
• MyVariant Identifiers: chr14:g.24728367C>T (hg19) ; chr14:g.24259161C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259161C>T , CM000676.2:g.24259161C>T	GRCh38
NC_000014.8:g.24728367C>T , CM000676.1:g.24728367C>T	GRCh37
NC_000014.7:g.23798207C>T	NCBI36
NG_007150.1:g.9006G>A
NG_007150.2:g.9006G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1073G>A MANE Select	ENSP00000206765.6:p.Ser358Asn
ENST00000206765.10:c.1073G>A	ENSP00000206765.6:p.Ser358Asn
ENST00000544573.5:c.-28-773G>A	ENSP00000439446.1:n.-28-773G>A
ENST00000559136.1:c.146G>A	ENSP00000453337.1:p.Ser49Asn
NM_000359.2:c.1073G>A	NP_000350.1:p.Ser358Asn
NM_000359.3:c.1073G>A MANE Select	NP_000350.1:p.Ser358Asn