Canonical Allele Identifier: CA389267801
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259723G>T , CM000676.2:g.24259723G>T GRCh38
NC_000014.8:g.24728929G>T , CM000676.1:g.24728929G>T GRCh37
NC_000014.7:g.23798769G>T NCBI36
NG_007150.1:g.8444C>A
NG_007150.2:g.8444C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.965C>A MANE Select ENSP00000206765.6:p.Ser322Tyr
ENST00000206765.10:c.965C>A ENSP00000206765.6:p.Ser322Tyr
ENST00000544573.5:c.-28-1335C>A ENSP00000439446.1:n.-28-1335C>A
ENST00000559136.1:c.38C>A ENSP00000453337.1:p.Ser13Tyr
NM_000359.2:c.965C>A NP_000350.1:p.Ser322Tyr
NM_000359.3:c.965C>A MANE Select NP_000350.1:p.Ser322Tyr