Canonical Allele Identifier: CA389255765
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256000T>C , CM000676.2:g.24256000T>C GRCh38
NC_000014.8:g.24725206T>C , CM000676.1:g.24725206T>C GRCh37
NC_000014.7:g.23795046T>C NCBI36
NG_007150.1:g.12167A>G
NG_007150.2:g.12167A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1480A>G MANE Select ENSP00000206765.6:p.Ile494Val
ENST00000206765.10:c.1480A>G ENSP00000206765.6:p.Ile494Val
ENST00000544573.5:c.154A>G ENSP00000439446.1:p.Ile52Val
ENST00000559136.1:c.553A>G ENSP00000453337.1:p.Ile185Val
NM_000359.2:c.1480A>G NP_000350.1:p.Ile494Val
NM_000359.3:c.1480A>G MANE Select NP_000350.1:p.Ile494Val