Canonical Allele Identifier: CA7131492
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2524555
ClinVar RCV Id: RCV003274575
dbSNP Id: rs779376697
ExAC: 14:24731288 C / G
gnomAD v2: 14-24731288-C-G
gnomAD v3: 14-24262082-C-G
gnomAD v4: 14-24262082-C-G
MyVariant Identifiers: chr14:g.24731288C>G (hg19) chr14:g.24262082C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24262082C>G , CM000676.2:g.24262082C>G GRCh38
NC_000014.8:g.24731288C>G , CM000676.1:g.24731288C>G GRCh37
NC_000014.7:g.23801128C>G NCBI36
NG_007150.1:g.6085G>C
NG_007150.2:g.6085G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.271G>C MANE Select ENSP00000206765.6:p.Val91Leu
ENST00000206765.10:c.271G>C ENSP00000206765.6:p.Val91Leu
ENST00000544573.5:c.-29+45G>C ENSP00000439446.1:n.-29+45G>C
ENST00000558074.1:c.271G>C ENSP00000453840.1:p.Val91Leu
NM_000359.2:c.271G>C NP_000350.1:p.Val91Leu
NM_000359.3:c.271G>C MANE Select NP_000350.1:p.Val91Leu
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