Canonical Allele Identifier: CA389269680
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs121918727

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259959C>G , CM000676.2:g.24259959C>G GRCh38
NC_000014.8:g.24729165C>G , CM000676.1:g.24729165C>G GRCh37
NC_000014.7:g.23799005C>G NCBI36
NG_007150.1:g.8208G>C
NG_007150.2:g.8208G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.857G>C MANE Select ENSP00000206765.6:p.Arg286Pro
ENST00000206765.10:c.857G>C ENSP00000206765.6:p.Arg286Pro
ENST00000544573.5:c.-28-1571G>C ENSP00000439446.1:n.-28-1571G>C
ENST00000559136.1:c.-71G>C ENSP00000453337.1:n.-71G>C
NM_000359.2:c.857G>C NP_000350.1:p.Arg286Pro
NM_000359.3:c.857G>C MANE Select NP_000350.1:p.Arg286Pro