Canonical Allele Identifier: CA257894101
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1177768
ClinVar RCV Id: RCV001533913
dbSNP Id: rs3783442
gnomAD v2: 14-24725556-G-C
gnomAD v3: 14-24256350-G-C
gnomAD v4: 14-24256350-G-C
MyVariant Identifiers: chr14:g.24725556G>C (hg19) chr14:g.24256350G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256350G>C , CM000676.2:g.24256350G>C GRCh38
NC_000014.8:g.24725556G>C , CM000676.1:g.24725556G>C GRCh37
NC_000014.7:g.23795396G>C NCBI36
NG_007150.1:g.11817C>G
NG_007150.2:g.11817C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1403-273C>G MANE Select ENSP00000206765.6:n.1403-273C>G
ENST00000206765.10:c.1403-273C>G ENSP00000206765.6:n.1403-273C>G
ENST00000544573.5:c.77-273C>G ENSP00000439446.1:n.77-273C>G
ENST00000559136.1:c.476-273C>G ENSP00000453337.1:n.476-273C>G
NM_000359.2:c.1403-273C>G NP_000350.1:n.1403-273C>G
NM_000359.3:c.1403-273C>G MANE Select NP_000350.1:n.1403-273C>G
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