Canonical Allele Identifier: CA7131181

Gene: TGM1

Linked Data

• dbSNP Id: rs749647190
• ExAC: 14:24728260 C / G
• gnomAD v2: 14-24728260-C-G
• gnomAD v4: 14-24259054-C-G
• MyVariant Identifiers: chr14:g.24728260C>G (hg19) ; chr14:g.24259054C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24259054C>G , CM000676.2:g.24259054C>G	GRCh38
NC_000014.8:g.24728260C>G , CM000676.1:g.24728260C>G	GRCh37
NC_000014.7:g.23798100C>G	NCBI36
NG_007150.1:g.9113G>C
NG_007150.2:g.9113G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1159+21G>C MANE Select	ENSP00000206765.6:n.1159+21G>C
ENST00000206765.10:c.1159+21G>C	ENSP00000206765.6:n.1159+21G>C
ENST00000544573.5:c.-28-666G>C	ENSP00000439446.1:n.-28-666G>C
ENST00000559136.1:c.232+21G>C	ENSP00000453337.1:n.232+21G>C
NM_000359.2:c.1159+21G>C	NP_000350.1:n.1159+21G>C
NM_000359.3:c.1159+21G>C MANE Select	NP_000350.1:n.1159+21G>C