Canonical Allele Identifier: CA2697553834
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2766926
ClinVar RCV Id: RCV003580513
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24255975A>T , CM000676.2:g.24255975A>T GRCh38
NC_000014.8:g.24725181A>T , CM000676.1:g.24725181A>T GRCh37
NC_000014.7:g.23795021A>T NCBI36
NG_007150.1:g.12192T>A
NG_007150.2:g.12192T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1491+14T>A MANE Select ENSP00000206765.6:n.1491+14T>A
ENST00000206765.10:c.1491+14T>A ENSP00000206765.6:n.1491+14T>A
ENST00000544573.5:c.165+14T>A ENSP00000439446.1:n.165+14T>A
ENST00000559136.1:c.564+14T>A ENSP00000453337.1:n.564+14T>A
NM_000359.2:c.1491+14T>A NP_000350.1:n.1491+14T>A
NM_000359.3:c.1491+14T>A MANE Select NP_000350.1:n.1491+14T>A
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