Canonical Allele Identifier: CA485663635
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2870528
ClinVar RCV Id: RCV003703321
dbSNP Id: rs2040748511
gnomAD v2: 14-24725267-G-A
gnomAD v4: 14-24256061-G-A
MyVariant Identifiers: chr14:g.24725267G>A (hg19) chr14:g.24725267_24725268delinsAC (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256061G>A , CM000676.2:g.24256061G>A GRCh38
NC_000014.8:g.24725267G>A , CM000676.1:g.24725267G>A GRCh37
NC_000014.7:g.23795107G>A NCBI36
NG_007150.1:g.12106C>T
NG_007150.2:g.12106C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1419C>T MANE Select ENSP00000206765.6:p.Gly473=
ENST00000206765.10:c.1419C>T ENSP00000206765.6:p.Gly473=
ENST00000544573.5:c.93C>T ENSP00000439446.1:p.Gly31=
ENST00000559136.1:c.492C>T ENSP00000453337.1:p.Gly164=
NM_000359.2:c.1419C>T NP_000350.1:p.Gly473=
NM_000359.3:c.1419C>T MANE Select NP_000350.1:p.Gly473=
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Search 100 bp 3'