Canonical Allele Identifier: CA389265322

Gene: TGM1

Linked Data

• MyVariant Identifiers: chr14:g.24728425T>A (hg19) ; chr14:g.24259219T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259219T>A , CM000676.2:g.24259219T>A	GRCh38
NC_000014.8:g.24728425T>A , CM000676.1:g.24728425T>A	GRCh37
NC_000014.7:g.23798265T>A	NCBI36
NG_007150.1:g.8948A>T
NG_007150.2:g.8948A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1015A>T MANE Select	ENSP00000206765.6:p.Ile339Phe
ENST00000206765.10:c.1015A>T	ENSP00000206765.6:p.Ile339Phe
ENST00000544573.5:c.-28-831A>T	ENSP00000439446.1:n.-28-831A>T
ENST00000559136.1:c.88A>T	ENSP00000453337.1:p.Ile30Phe
NM_000359.2:c.1015A>T	NP_000350.1:p.Ile339Phe
NM_000359.3:c.1015A>T MANE Select	NP_000350.1:p.Ile339Phe