Canonical Allele Identifier: CA7131183
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1579347
ClinVar RCV Id: RCV002083908
dbSNP Id: rs571513690
ExAC: 14:24728285 G / T
gnomAD v2: 14-24728285-G-T
gnomAD v3: 14-24259079-G-T
gnomAD v4: 14-24259079-G-T
MyVariant Identifiers: chr14:g.24728285G>T (hg19) chr14:g.24259079G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259079G>T , CM000676.2:g.24259079G>T GRCh38
NC_000014.8:g.24728285G>T , CM000676.1:g.24728285G>T GRCh37
NC_000014.7:g.23798125G>T NCBI36
NG_007150.1:g.9088C>A
NG_007150.2:g.9088C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1155C>A MANE Select ENSP00000206765.6:p.Thr385=
ENST00000206765.10:c.1155C>A ENSP00000206765.6:p.Thr385=
ENST00000544573.5:c.-28-691C>A ENSP00000439446.1:n.-28-691C>A
ENST00000559136.1:c.228C>A ENSP00000453337.1:p.Thr76=
NM_000359.2:c.1155C>A NP_000350.1:p.Thr385=
NM_000359.3:c.1155C>A MANE Select NP_000350.1:p.Thr385=
Search 100 bp 5'
Search 100 bp 3'