Canonical Allele Identifier: CA7131089
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1085118
ClinVar RCV Id: RCV001402390
dbSNP Id: rs759957199
ExAC: 14:24725270 G / A
gnomAD v2: 14-24725270-G-A
gnomAD v3: 14-24256064-G-A
gnomAD v4: 14-24256064-G-A
MyVariant Identifiers: chr14:g.24725270G>A (hg19) chr14:g.24256064G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256064G>A , CM000676.2:g.24256064G>A GRCh38
NC_000014.8:g.24725270G>A , CM000676.1:g.24725270G>A GRCh37
NC_000014.7:g.23795110G>A NCBI36
NG_007150.1:g.12103C>T
NG_007150.2:g.12103C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1416C>T MANE Select ENSP00000206765.6:p.Cys472=
ENST00000206765.10:c.1416C>T ENSP00000206765.6:p.Cys472=
ENST00000544573.5:c.90C>T ENSP00000439446.1:p.Cys30=
ENST00000559136.1:c.489C>T ENSP00000453337.1:p.Cys163=
NM_000359.2:c.1416C>T NP_000350.1:p.Cys472=
NM_000359.3:c.1416C>T MANE Select NP_000350.1:p.Cys472=
Search 100 bp 5'
Search 100 bp 3'