Canonical Allele Identifier: CA2511386269

Gene: TGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24255961A>C , CM000676.2:g.24255961A>C	GRCh38
NC_000014.8:g.24725167A>C , CM000676.1:g.24725167A>C	GRCh37
NC_000014.7:g.23795007A>C	NCBI36
NG_007150.1:g.12206T>G
NG_007150.2:g.12206T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1491+28T>G MANE Select	ENSP00000206765.6:n.1491+28T>G
ENST00000206765.10:c.1491+28T>G	ENSP00000206765.6:n.1491+28T>G
ENST00000544573.5:c.165+28T>G	ENSP00000439446.1:n.165+28T>G
ENST00000559136.1:c.564+28T>G	ENSP00000453337.1:n.564+28T>G
NM_000359.2:c.1491+28T>G	NP_000350.1:n.1491+28T>G
NM_000359.3:c.1491+28T>G MANE Select	NP_000350.1:n.1491+28T>G