Canonical Allele Identifier: CA961133266

Gene: TGM1

Linked Data

• dbSNP Id: rs2040747181
• gnomAD v3: 14-24255963-G-A
• gnomAD v4: 14-24255963-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24255963G>A , CM000676.2:g.24255963G>A	GRCh38
NC_000014.8:g.24725169G>A , CM000676.1:g.24725169G>A	GRCh37
NC_000014.7:g.23795009G>A	NCBI36
NG_007150.1:g.12204C>T
NG_007150.2:g.12204C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000206765.11:c.1491+26C>T MANE Select	ENSP00000206765.6:n.1491+26C>T
ENST00000206765.10:c.1491+26C>T	ENSP00000206765.6:n.1491+26C>T
ENST00000544573.5:c.165+26C>T	ENSP00000439446.1:n.165+26C>T
ENST00000559136.1:c.564+26C>T	ENSP00000453337.1:n.564+26C>T
NM_000359.2:c.1491+26C>T	NP_000350.1:n.1491+26C>T
NM_000359.3:c.1491+26C>T MANE Select	NP_000350.1:n.1491+26C>T