Canonical Allele Identifier: CA389265173
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259207A>C , CM000676.2:g.24259207A>C GRCh38
NC_000014.8:g.24728413A>C , CM000676.1:g.24728413A>C GRCh37
NC_000014.7:g.23798253A>C NCBI36
NG_007150.1:g.8960T>G
NG_007150.2:g.8960T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1027T>G MANE Select ENSP00000206765.6:p.Ser343Ala
ENST00000206765.10:c.1027T>G ENSP00000206765.6:p.Ser343Ala
ENST00000544573.5:c.-28-819T>G ENSP00000439446.1:n.-28-819T>G
ENST00000559136.1:c.100T>G ENSP00000453337.1:p.Ser34Ala
NM_000359.2:c.1027T>G NP_000350.1:p.Ser343Ala
NM_000359.3:c.1027T>G MANE Select NP_000350.1:p.Ser343Ala