Canonical Allele Identifier: CA485663901
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1635012
ClinVar RCV Id: RCV002143004
dbSNP Id: rs2139024234
MyVariant Identifiers: chr14:g.24728357G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259151G>A , CM000676.2:g.24259151G>A GRCh38
NC_000014.8:g.24728357G>A , CM000676.1:g.24728357G>A GRCh37
NC_000014.7:g.23798197G>A NCBI36
NG_007150.1:g.9016C>T
NG_007150.2:g.9016C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1083C>T MANE Select ENSP00000206765.6:p.Ile361=
ENST00000206765.10:c.1083C>T ENSP00000206765.6:p.Ile361=
ENST00000544573.5:c.-28-763C>T ENSP00000439446.1:n.-28-763C>T
ENST00000559136.1:c.156C>T ENSP00000453337.1:p.Ile52=
NM_000359.2:c.1083C>T NP_000350.1:p.Ile361=
NM_000359.3:c.1083C>T MANE Select NP_000350.1:p.Ile361=
Search 100 bp 5'
Search 100 bp 3'