Canonical Allele Identifier: CA257898636
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1115867
ClinVar RCV Id: RCV001444070
dbSNP Id: rs1012606059
gnomAD v2: 14-24728384-T-C
gnomAD v3: 14-24259178-T-C
gnomAD v4: 14-24259178-T-C
MyVariant Identifiers: chr14:g.24728384T>C (hg19) chr14:g.24259178T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259178T>C , CM000676.2:g.24259178T>C GRCh38
NC_000014.8:g.24728384T>C , CM000676.1:g.24728384T>C GRCh37
NC_000014.7:g.23798224T>C NCBI36
NG_007150.1:g.8989A>G
NG_007150.2:g.8989A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1056A>G MANE Select ENSP00000206765.6:p.Pro352=
ENST00000206765.10:c.1056A>G ENSP00000206765.6:p.Pro352=
ENST00000544573.5:c.-28-790A>G ENSP00000439446.1:n.-28-790A>G
ENST00000559136.1:c.129A>G ENSP00000453337.1:p.Pro43=
NM_000359.2:c.1056A>G NP_000350.1:p.Pro352=
NM_000359.3:c.1056A>G MANE Select NP_000350.1:p.Pro352=
Search 100 bp 5'
Search 100 bp 3'