Canonical Allele Identifier: CA2123854491

Gene: TGM1

Linked Data

• dbSNP Id: rs2040781338
• gnomAD v3: 14-24258927-A-C
• gnomAD v4: 14-24258927-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24258927A>C , CM000676.2:g.24258927A>C	GRCh38
NC_000014.8:g.24728133A>C , CM000676.1:g.24728133A>C	GRCh37
NC_000014.7:g.23797973A>C	NCBI36
NG_007150.1:g.9240T>G
NG_007150.2:g.9240T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1159+148T>G MANE Select	ENSP00000206765.6:n.1159+148T>G
ENST00000206765.10:c.1159+148T>G	ENSP00000206765.6:n.1159+148T>G
ENST00000544573.5:c.-28-539T>G	ENSP00000439446.1:n.-28-539T>G
ENST00000559136.1:c.232+148T>G	ENSP00000453337.1:n.232+148T>G
NM_000359.2:c.1159+148T>G	NP_000350.1:n.1159+148T>G
NM_000359.3:c.1159+148T>G MANE Select	NP_000350.1:n.1159+148T>G