Canonical Allele Identifier: CA7131187
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs769601827
ExAC: 14:24728312 C / T
gnomAD v2: 14-24728312-C-T
gnomAD v4: 14-24259106-C-T
MyVariant Identifiers: chr14:g.24728312C>T (hg19) chr14:g.24259106C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259106C>T , CM000676.2:g.24259106C>T GRCh38
NC_000014.8:g.24728312C>T , CM000676.1:g.24728312C>T GRCh37
NC_000014.7:g.23798152C>T NCBI36
NG_007150.1:g.9061G>A
NG_007150.2:g.9061G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.1128G>A MANE Select ENSP00000206765.6:p.Gln376=
ENST00000206765.10:c.1128G>A ENSP00000206765.6:p.Gln376=
ENST00000544573.5:c.-28-718G>A ENSP00000439446.1:n.-28-718G>A
ENST00000559136.1:c.201G>A ENSP00000453337.1:p.Gln67=
NM_000359.2:c.1128G>A NP_000350.1:p.Gln376=
NM_000359.3:c.1128G>A MANE Select NP_000350.1:p.Gln376=
Search 100 bp 5'
Search 100 bp 3'