Canonical Allele Identifier: CA257898886
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs999298786
gnomAD v3: 14-24259503-T-C
gnomAD v4: 14-24259503-T-C
MyVariant Identifiers: chr14:g.24728709T>C (hg19) chr14:g.24259503T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259503T>C , CM000676.2:g.24259503T>C GRCh38
NC_000014.8:g.24728709T>C , CM000676.1:g.24728709T>C GRCh37
NC_000014.7:g.23798549T>C NCBI36
NG_007150.1:g.8664A>G
NG_007150.2:g.8664A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.984+201A>G MANE Select ENSP00000206765.6:n.984+201A>G
ENST00000206765.10:c.984+201A>G ENSP00000206765.6:n.984+201A>G
ENST00000544573.5:c.-28-1115A>G ENSP00000439446.1:n.-28-1115A>G
ENST00000559136.1:c.57+201A>G ENSP00000453337.1:n.57+201A>G
NM_000359.2:c.984+201A>G NP_000350.1:n.984+201A>G
NM_000359.3:c.984+201A>G MANE Select NP_000350.1:n.984+201A>G
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