Canonical Allele Identifier: CA485663617
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1150191
ClinVar RCV Id: RCV001490705
dbSNP Id: rs2855109
gnomAD v2: 14-24725234-C-T
gnomAD v4: 14-24256028-C-T
MyVariant Identifiers: chr14:g.24725234C>T (hg19) chr14:g.24256028C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256028C>T , CM000676.2:g.24256028C>T GRCh38
NC_000014.8:g.24725234C>T , CM000676.1:g.24725234C>T GRCh37
NC_000014.7:g.23795074C>T NCBI36
NG_007150.1:g.12139G>A
NG_007150.2:g.12139G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1452G>A MANE Select ENSP00000206765.6:p.Leu484=
ENST00000206765.10:c.1452G>A ENSP00000206765.6:p.Leu484=
ENST00000544573.5:c.126G>A ENSP00000439446.1:p.Leu42=
ENST00000559136.1:c.525G>A ENSP00000453337.1:p.Leu175=
NM_000359.2:c.1452G>A NP_000350.1:p.Leu484=
NM_000359.3:c.1452G>A MANE Select NP_000350.1:p.Leu484=
Search 100 bp 5'
Search 100 bp 3'