Canonical Allele Identifier: CA389265004
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 556205
ClinVar RCV Id: RCV000672174 RCV001592854 RCV003387906
dbSNP Id: rs1296165092
gnomAD v2: 14-24728398-G-A
gnomAD v3: 14-24259192-G-A
gnomAD v4: 14-24259192-G-A
MyVariant Identifiers: chr14:g.24728398G>A (hg19) chr14:g.24259192G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259192G>A , CM000676.2:g.24259192G>A GRCh38
NC_000014.8:g.24728398G>A , CM000676.1:g.24728398G>A GRCh37
NC_000014.7:g.23798238G>A NCBI36
NG_007150.1:g.8975C>T
NG_007150.2:g.8975C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1042C>T MANE Select ENSP00000206765.6:p.Arg348Ter
ENST00000206765.10:c.1042C>T ENSP00000206765.6:p.Arg348Ter
ENST00000544573.5:c.-28-804C>T ENSP00000439446.1:n.-28-804C>T
ENST00000559136.1:c.115C>T ENSP00000453337.1:p.Arg39Ter
NM_000359.2:c.1042C>T NP_000350.1:p.Arg348Ter
NM_000359.3:c.1042C>T MANE Select NP_000350.1:p.Arg348Ter
Search 100 bp 5'
Search 100 bp 3'