Canonical Allele Identifier: CA7131207
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1138382
ClinVar RCV Id: RCV001474740
dbSNP Id: rs545348591
ExAC: 14:24728399 G / C
gnomAD v2: 14-24728399-G-C
gnomAD v3: 14-24259193-G-C
gnomAD v4: 14-24259193-G-C
MyVariant Identifiers: chr14:g.24728399G>C (hg19) chr14:g.24259193G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259193G>C , CM000676.2:g.24259193G>C GRCh38
NC_000014.8:g.24728399G>C , CM000676.1:g.24728399G>C GRCh37
NC_000014.7:g.23798239G>C NCBI36
NG_007150.1:g.8974C>G
NG_007150.2:g.8974C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1041C>G MANE Select ENSP00000206765.6:p.Ser347=
ENST00000206765.10:c.1041C>G ENSP00000206765.6:p.Ser347=
ENST00000544573.5:c.-28-805C>G ENSP00000439446.1:n.-28-805C>G
ENST00000559136.1:c.114C>G ENSP00000453337.1:p.Ser38=
NM_000359.2:c.1041C>G NP_000350.1:p.Ser347=
NM_000359.3:c.1041C>G MANE Select NP_000350.1:p.Ser347=
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