Canonical Allele Identifier: CA389264588
Gene: TGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259159C>A , CM000676.2:g.24259159C>A GRCh38
NC_000014.8:g.24728365C>A , CM000676.1:g.24728365C>A GRCh37
NC_000014.7:g.23798205C>A NCBI36
NG_007150.1:g.9008G>T
NG_007150.2:g.9008G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1075G>T MANE Select ENSP00000206765.6:p.Val359Leu
ENST00000206765.10:c.1075G>T ENSP00000206765.6:p.Val359Leu
ENST00000544573.5:c.-28-771G>T ENSP00000439446.1:n.-28-771G>T
ENST00000559136.1:c.148G>T ENSP00000453337.1:p.Val50Leu
NM_000359.2:c.1075G>T NP_000350.1:p.Val359Leu
NM_000359.3:c.1075G>T MANE Select NP_000350.1:p.Val359Leu