Canonical Allele Identifier: CA2624346178
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24258952-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24258952C>T , CM000676.2:g.24258952C>T GRCh38
NC_000014.8:g.24728158C>T , CM000676.1:g.24728158C>T GRCh37
NC_000014.7:g.23797998C>T NCBI36
NG_007150.1:g.9215G>A
NG_007150.2:g.9215G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1159+123G>A MANE Select ENSP00000206765.6:n.1159+123G>A
ENST00000206765.10:c.1159+123G>A ENSP00000206765.6:n.1159+123G>A
ENST00000544573.5:c.-28-564G>A ENSP00000439446.1:n.-28-564G>A
ENST00000559136.1:c.232+123G>A ENSP00000453337.1:n.232+123G>A
NM_000359.2:c.1159+123G>A NP_000350.1:n.1159+123G>A
NM_000359.3:c.1159+123G>A MANE Select NP_000350.1:n.1159+123G>A
Search 100 bp 5'
Search 100 bp 3'