Canonical Allele Identifier: CA704352120
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3023259
ClinVar RCV Id: RCV003882445
dbSNP Id: rs746777441
MyVariant Identifiers: chr14:g.24729137G>T (hg19) chr14:g.24259931G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259931G>T , CM000676.2:g.24259931G>T GRCh38
NC_000014.8:g.24729137G>T , CM000676.1:g.24729137G>T GRCh37
NC_000014.7:g.23798977G>T NCBI36
NG_007150.1:g.8236C>A
NG_007150.2:g.8236C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.876+9C>A MANE Select ENSP00000206765.6:n.876+9C>A
ENST00000206765.10:c.876+9C>A ENSP00000206765.6:n.876+9C>A
ENST00000544573.5:c.-28-1543C>A ENSP00000439446.1:n.-28-1543C>A
ENST00000559136.1:c.-52+9C>A ENSP00000453337.1:n.-52+9C>A
NM_000359.2:c.876+9C>A NP_000350.1:n.876+9C>A
NM_000359.3:c.876+9C>A MANE Select NP_000350.1:n.876+9C>A
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