Canonical Allele Identifier: CA485663962

Gene: TGM1

Linked Data

• dbSNP Id: rs1281689041
• gnomAD v2: 14-24728390-G-A
• MyVariant Identifiers: chr14:g.24728390G>A (hg19) ; chr14:g.24259184G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259184G>A , CM000676.2:g.24259184G>A	GRCh38
NC_000014.8:g.24728390G>A , CM000676.1:g.24728390G>A	GRCh37
NC_000014.7:g.23798230G>A	NCBI36
NG_007150.1:g.8983C>T
NG_007150.2:g.8983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1050C>T MANE Select	ENSP00000206765.6:p.Thr350=
ENST00000206765.10:c.1050C>T	ENSP00000206765.6:p.Thr350=
ENST00000544573.5:c.-28-796C>T	ENSP00000439446.1:n.-28-796C>T
ENST00000559136.1:c.123C>T	ENSP00000453337.1:p.Thr41=
NM_000359.2:c.1050C>T	NP_000350.1:p.Thr350=
NM_000359.3:c.1050C>T MANE Select	NP_000350.1:p.Thr350=