Canonical Allele Identifier: CA389276796
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261700A>G , CM000676.2:g.24261700A>G GRCh38
NC_000014.8:g.24730906A>G , CM000676.1:g.24730906A>G GRCh37
NC_000014.7:g.23800746A>G NCBI36
NG_007150.1:g.6467T>C
NG_007150.2:g.6467T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.503T>C MANE Select ENSP00000206765.6:p.Leu168Pro
ENST00000206765.10:c.503T>C ENSP00000206765.6:p.Leu168Pro
ENST00000544573.5:c.-29+427T>C ENSP00000439446.1:n.-29+427T>C
NM_000359.2:c.503T>C NP_000350.1:p.Leu168Pro
NM_000359.3:c.503T>C MANE Select NP_000350.1:p.Leu168Pro