Canonical Allele Identifier: CA485664027
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24728429G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259223G>T , CM000676.2:g.24259223G>T GRCh38
NC_000014.8:g.24728429G>T , CM000676.1:g.24728429G>T GRCh37
NC_000014.7:g.23798269G>T NCBI36
NG_007150.1:g.8944C>A
NG_007150.2:g.8944C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1011C>A MANE Select ENSP00000206765.6:p.Val337=
ENST00000206765.10:c.1011C>A ENSP00000206765.6:p.Val337=
ENST00000544573.5:c.-28-835C>A ENSP00000439446.1:n.-28-835C>A
ENST00000559136.1:c.84C>A ENSP00000453337.1:p.Val28=
NM_000359.2:c.1011C>A NP_000350.1:p.Val337=
NM_000359.3:c.1011C>A MANE Select NP_000350.1:p.Val337=