Canonical Allele Identifier: CA256477
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 12500
ClinVar RCV Id: RCV001219929 RCV001526608 RCV003230360 RCV000013323
dbSNP Id: rs121918732
ExAC: 14:24729761 C / T
gnomAD v2: 14-24729761-C-T
gnomAD v3: 14-24260555-C-T
gnomAD v4: 14-24260555-C-T
MyVariant Identifiers: chr14:g.24729761C>T (hg19) chr14:g.24260555C>T (hg38)
PubMed: PMID:9326318
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24260555C>T , CM000676.2:g.24260555C>T GRCh38
NC_000014.8:g.24729761C>T , CM000676.1:g.24729761C>T GRCh37
NC_000014.7:g.23799601C>T NCBI36
NG_007150.1:g.7612G>A
NG_007150.2:g.7612G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.652G>A MANE Select ENSP00000206765.6:p.Gly218Ser
ENST00000206765.10:c.652G>A ENSP00000206765.6:p.Gly218Ser
ENST00000544573.5:c.-29+1572G>A ENSP00000439446.1:n.-29+1572G>A
NM_000359.2:c.652G>A NP_000350.1:p.Gly218Ser
NM_000359.3:c.652G>A MANE Select NP_000350.1:p.Gly218Ser
Search 100 bp 5'
Search 100 bp 3'