Canonical Allele Identifier: CA7131418
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372784
ClinVar RCV Id: RCV000414724 RCV001275151
dbSNP Id: rs139208806
ExAC: 14:24730989 T / C
gnomAD v2: 14-24730989-T-C
gnomAD v3: 14-24261783-T-C
gnomAD v4: 14-24261783-T-C
MyVariant Identifiers: chr14:g.24730989T>C (hg19) chr14:g.24261783T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261783T>C , CM000676.2:g.24261783T>C GRCh38
NC_000014.8:g.24730989T>C , CM000676.1:g.24730989T>C GRCh37
NC_000014.7:g.23800829T>C NCBI36
NG_007150.1:g.6384A>G
NG_007150.2:g.6384A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.420A>G MANE Select ENSP00000206765.6:p.Ile140Met
ENST00000206765.10:c.420A>G ENSP00000206765.6:p.Ile140Met
ENST00000544573.5:c.-29+344A>G ENSP00000439446.1:n.-29+344A>G
NM_000359.2:c.420A>G NP_000350.1:p.Ile140Met
NM_000359.3:c.420A>G MANE Select NP_000350.1:p.Ile140Met
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Search 100 bp 3'