Canonical Allele Identifier: CA7131493
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 312993
ClinVar RCV Id: RCV000399470 RCV000924505
dbSNP Id: rs201400055
ExAC: 14:24731289 A / T
gnomAD v2: 14-24731289-A-T
gnomAD v3: 14-24262083-A-T
gnomAD v4: 14-24262083-A-T
MyVariant Identifiers: chr14:g.24731289A>T (hg19) chr14:g.24262083A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24262083A>T , CM000676.2:g.24262083A>T GRCh38
NC_000014.8:g.24731289A>T , CM000676.1:g.24731289A>T GRCh37
NC_000014.7:g.23801129A>T NCBI36
NG_007150.1:g.6084T>A
NG_007150.2:g.6084T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.270T>A MANE Select ENSP00000206765.6:p.Pro90=
ENST00000206765.10:c.270T>A ENSP00000206765.6:p.Pro90=
ENST00000544573.5:c.-29+44T>A ENSP00000439446.1:n.-29+44T>A
ENST00000558074.1:c.270T>A ENSP00000453840.1:p.Pro90=
NM_000359.2:c.270T>A NP_000350.1:p.Pro90=
NM_000359.3:c.270T>A MANE Select NP_000350.1:p.Pro90=
Search 100 bp 5'
Search 100 bp 3'