Canonical Allele Identifier: CA7131506

Gene: TGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24262121G>A , CM000676.2:g.24262121G>A	GRCh38
NC_000014.8:g.24731327G>A , CM000676.1:g.24731327G>A	GRCh37
NC_000014.7:g.23801167G>A	NCBI36
NG_007150.1:g.6046C>T
NG_007150.2:g.6046C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000359.3:c.232C>T MANE Select	NP_000350.1:p.Arg78Ter
ENST00000206765.11:c.232C>T MANE Select	ENSP00000206765.6:p.Arg78Ter
NM_000359.2:c.232C>T	NP_000350.1:p.Arg78Ter
ENST00000206765.10:c.232C>T	ENSP00000206765.6:p.Arg78Ter
ENST00000544573.5:c.-29+6C>T	ENSP00000439446.1:n.-29+6C>T
ENST00000558074.1:c.232C>T	ENSP00000453840.1:p.Arg78Ter