Canonical Allele Identifier: CA2624345708
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2822915
ClinVar RCV Id: RCV003714306
gnomAD v4: 14-24255979-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24255979C>T , CM000676.2:g.24255979C>T GRCh38
NC_000014.8:g.24725185C>T , CM000676.1:g.24725185C>T GRCh37
NC_000014.7:g.23795025C>T NCBI36
NG_007150.1:g.12188G>A
NG_007150.2:g.12188G>A

Transcript Alleles

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