Canonical Allele Identifier: CA389265136

Gene: TGM1

Linked Data

• MyVariant Identifiers: chr14:g.24728412G>A (hg19) ; chr14:g.24259206G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259206G>A , CM000676.2:g.24259206G>A	GRCh38
NC_000014.8:g.24728412G>A , CM000676.1:g.24728412G>A	GRCh37
NC_000014.7:g.23798252G>A	NCBI36
NG_007150.1:g.8961C>T
NG_007150.2:g.8961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1028C>T MANE Select	ENSP00000206765.6:p.Ser343Phe
ENST00000206765.10:c.1028C>T	ENSP00000206765.6:p.Ser343Phe
ENST00000544573.5:c.-28-818C>T	ENSP00000439446.1:n.-28-818C>T
ENST00000559136.1:c.101C>T	ENSP00000453337.1:p.Ser34Phe
NM_000359.2:c.1028C>T	NP_000350.1:p.Ser343Phe
NM_000359.3:c.1028C>T MANE Select	NP_000350.1:p.Ser343Phe