Canonical Allele Identifier: CA7131198
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 991814
ClinVar RCV Id: RCV001280088
dbSNP Id: rs757682828
ExAC: 14:24728359 T / C
gnomAD v2: 14-24728359-T-C
gnomAD v3: 14-24259153-T-C
gnomAD v4: 14-24259153-T-C
MyVariant Identifiers: chr14:g.24728359T>C (hg19) chr14:g.24259153T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259153T>C , CM000676.2:g.24259153T>C GRCh38
NC_000014.8:g.24728359T>C , CM000676.1:g.24728359T>C GRCh37
NC_000014.7:g.23798199T>C NCBI36
NG_007150.1:g.9014A>G
NG_007150.2:g.9014A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1081A>G MANE Select ENSP00000206765.6:p.Ile361Val
ENST00000206765.10:c.1081A>G ENSP00000206765.6:p.Ile361Val
ENST00000544573.5:c.-28-765A>G ENSP00000439446.1:n.-28-765A>G
ENST00000559136.1:c.154A>G ENSP00000453337.1:p.Ile52Val
NM_000359.2:c.1081A>G NP_000350.1:p.Ile361Val
NM_000359.3:c.1081A>G MANE Select NP_000350.1:p.Ile361Val
Search 100 bp 5'
Search 100 bp 3'