Canonical Allele Identifier: CA389264904
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 694521
dbSNP Id: rs1594571148

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259180G>C , CM000676.2:g.24259180G>C GRCh38
NC_000014.8:g.24728386G>C , CM000676.1:g.24728386G>C GRCh37
NC_000014.7:g.23798226G>C NCBI36
NG_007150.1:g.8987C>G
NG_007150.2:g.8987C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1054C>G MANE Select ENSP00000206765.6:p.Pro352Ala
ENST00000206765.10:c.1054C>G ENSP00000206765.6:p.Pro352Ala
ENST00000544573.5:c.-28-792C>G ENSP00000439446.1:n.-28-792C>G
ENST00000559136.1:c.127C>G ENSP00000453337.1:p.Pro43Ala
NM_000359.2:c.1054C>G NP_000350.1:p.Pro352Ala
NM_000359.3:c.1054C>G MANE Select NP_000350.1:p.Pro352Ala