Canonical Allele Identifier: CA7131182
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2904500
ClinVar RCV Id: RCV003729323
dbSNP Id: rs558833930
ExAC: 14:24728264 C / T
gnomAD v2: 14-24728264-C-T
gnomAD v3: 14-24259058-C-T
gnomAD v4: 14-24259058-C-T
MyVariant Identifiers: chr14:g.24728264C>T (hg19) chr14:g.24259058C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259058C>T , CM000676.2:g.24259058C>T GRCh38
NC_000014.8:g.24728264C>T , CM000676.1:g.24728264C>T GRCh37
NC_000014.7:g.23798104C>T NCBI36
NG_007150.1:g.9109G>A
NG_007150.2:g.9109G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1159+17G>A MANE Select ENSP00000206765.6:n.1159+17G>A
ENST00000206765.10:c.1159+17G>A ENSP00000206765.6:n.1159+17G>A
ENST00000544573.5:c.-28-670G>A ENSP00000439446.1:n.-28-670G>A
ENST00000559136.1:c.232+17G>A ENSP00000453337.1:n.232+17G>A
NM_000359.2:c.1159+17G>A NP_000350.1:n.1159+17G>A
NM_000359.3:c.1159+17G>A MANE Select NP_000350.1:n.1159+17G>A
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