Canonical Allele Identifier: CA7131406
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2288350
ClinVar RCV Id: RCV002841337
dbSNP Id: rs374574340
ExAC: 14:24730945 C / T
gnomAD v2: 14-24730945-C-T
gnomAD v3: 14-24261739-C-T
gnomAD v4: 14-24261739-C-T
MyVariant Identifiers: chr14:g.24730945C>T (hg19) chr14:g.24261739C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261739C>T , CM000676.2:g.24261739C>T GRCh38
NC_000014.8:g.24730945C>T , CM000676.1:g.24730945C>T GRCh37
NC_000014.7:g.23800785C>T NCBI36
NG_007150.1:g.6428G>A
NG_007150.2:g.6428G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.464G>A MANE Select ENSP00000206765.6:p.Arg155Gln
ENST00000206765.10:c.464G>A ENSP00000206765.6:p.Arg155Gln
ENST00000544573.5:c.-29+388G>A ENSP00000439446.1:n.-29+388G>A
NM_000359.2:c.464G>A NP_000350.1:p.Arg155Gln
NM_000359.3:c.464G>A MANE Select NP_000350.1:p.Arg155Gln
Search 100 bp 5'
Search 100 bp 3'