Canonical Allele Identifier: CA389276676
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 959945
ClinVar RCV Id: RCV001233385
dbSNP Id: rs1298543276
MyVariant Identifiers: chr14:g.24730901C>A (hg19) chr14:g.24261695C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261695C>A , CM000676.2:g.24261695C>A GRCh38
NC_000014.8:g.24730901C>A , CM000676.1:g.24730901C>A GRCh37
NC_000014.7:g.23800741C>A NCBI36
NG_007150.1:g.6472G>T
NG_007150.2:g.6472G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.508G>T MANE Select ENSP00000206765.6:p.Gly170Ter
ENST00000206765.10:c.508G>T ENSP00000206765.6:p.Gly170Ter
ENST00000544573.5:c.-29+432G>T ENSP00000439446.1:n.-29+432G>T
NM_000359.2:c.508G>T NP_000350.1:p.Gly170Ter
NM_000359.3:c.508G>T MANE Select NP_000350.1:p.Gly170Ter
Search 100 bp 5'
Search 100 bp 3'