Canonical Allele Identifier: CA485663912
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1622417
ClinVar RCV Id: RCV002108299
dbSNP Id: rs2139024243
MyVariant Identifiers: chr14:g.24728363C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259157C>T , CM000676.2:g.24259157C>T GRCh38
NC_000014.8:g.24728363C>T , CM000676.1:g.24728363C>T GRCh37
NC_000014.7:g.23798203C>T NCBI36
NG_007150.1:g.9010G>A
NG_007150.2:g.9010G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1077G>A MANE Select ENSP00000206765.6:p.Val359=
ENST00000206765.10:c.1077G>A ENSP00000206765.6:p.Val359=
ENST00000544573.5:c.-28-769G>A ENSP00000439446.1:n.-28-769G>A
ENST00000559136.1:c.150G>A ENSP00000453337.1:p.Val50=
NM_000359.2:c.1077G>A NP_000350.1:p.Val359=
NM_000359.3:c.1077G>A MANE Select NP_000350.1:p.Val359=
Search 100 bp 5'
Search 100 bp 3'