Canonical Allele Identifier: CA16042951
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 372533
ClinVar RCV Id: RCV000414414 RCV000673993
dbSNP Id: rs151054393
gnomAD v2: 14-24729144-A-G
gnomAD v3: 14-24259938-A-G
gnomAD v4: 14-24259938-A-G
MyVariant Identifiers: chr14:g.24729144A>G (hg19) chr14:g.24259938A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259938A>G , CM000676.2:g.24259938A>G GRCh38
NC_000014.8:g.24729144A>G , CM000676.1:g.24729144A>G GRCh37
NC_000014.7:g.23798984A>G NCBI36
NG_007150.1:g.8229T>C
NG_007150.2:g.8229T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.876+2T>C MANE Select ENSP00000206765.6:n.876+2T>C
ENST00000206765.10:c.876+2T>C ENSP00000206765.6:n.876+2T>C
ENST00000544573.5:c.-28-1550T>C ENSP00000439446.1:n.-28-1550T>C
ENST00000559136.1:c.-52+2T>C ENSP00000453337.1:n.-52+2T>C
NM_000359.2:c.876+2T>C NP_000350.1:n.876+2T>C
NM_000359.3:c.876+2T>C MANE Select NP_000350.1:n.876+2T>C
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