Canonical Allele Identifier: CA257893899
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs147078520
gnomAD v2: 14-24725283-C-T
gnomAD v3: 14-24256077-C-T
gnomAD v4: 14-24256077-C-T
MyVariant Identifiers: chr14:g.24725283C>T (hg19) chr14:g.24256077C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256077C>T , CM000676.2:g.24256077C>T GRCh38
NC_000014.8:g.24725283C>T , CM000676.1:g.24725283C>T GRCh37
NC_000014.7:g.23795123C>T NCBI36
NG_007150.1:g.12090G>A
NG_007150.2:g.12090G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.1403G>A MANE Select ENSP00000206765.6:p.Gly468Asp
ENST00000206765.10:c.1403G>A ENSP00000206765.6:p.Gly468Asp
ENST00000544573.5:c.77G>A ENSP00000439446.1:p.Gly26Asp
ENST00000559136.1:c.476G>A ENSP00000453337.1:p.Gly159Asp
NM_000359.2:c.1403G>A NP_000350.1:p.Gly468Asp
NM_000359.3:c.1403G>A MANE Select NP_000350.1:p.Gly468Asp
Search 100 bp 5'
Search 100 bp 3'