Canonical Allele Identifier: CA389265376
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259225C>G , CM000676.2:g.24259225C>G GRCh38
NC_000014.8:g.24728431C>G , CM000676.1:g.24728431C>G GRCh37
NC_000014.7:g.23798271C>G NCBI36
NG_007150.1:g.8942G>C
NG_007150.2:g.8942G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1009G>C MANE Select ENSP00000206765.6:p.Val337Leu
ENST00000206765.10:c.1009G>C ENSP00000206765.6:p.Val337Leu
ENST00000544573.5:c.-28-837G>C ENSP00000439446.1:n.-28-837G>C
ENST00000559136.1:c.82G>C ENSP00000453337.1:p.Val28Leu
NM_000359.2:c.1009G>C NP_000350.1:p.Val337Leu
NM_000359.3:c.1009G>C MANE Select NP_000350.1:p.Val337Leu