Canonical Allele Identifier: CA485664121
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2004167
ClinVar RCV Id: RCV002828191
MyVariant Identifiers: chr14:g.24728435A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259229A>G , CM000676.2:g.24259229A>G GRCh38
NC_000014.8:g.24728435A>G , CM000676.1:g.24728435A>G GRCh37
NC_000014.7:g.23798275A>G NCBI36
NG_007150.1:g.8938T>C
NG_007150.2:g.8938T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1005T>C MANE Select ENSP00000206765.6:p.Asn335=
ENST00000206765.10:c.1005T>C ENSP00000206765.6:p.Asn335=
ENST00000544573.5:c.-28-841T>C ENSP00000439446.1:n.-28-841T>C
ENST00000559136.1:c.78T>C ENSP00000453337.1:p.Asn26=
NM_000359.2:c.1005T>C NP_000350.1:p.Asn335=
NM_000359.3:c.1005T>C MANE Select NP_000350.1:p.Asn335=
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Search 100 bp 3'