Canonical Allele Identifier: CA389255943
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2899841
ClinVar RCV Id: RCV003739846
dbSNP Id: rs866229566
gnomAD v2: 14-24725218-C-T
gnomAD v3: 14-24256012-C-T
gnomAD v4: 14-24256012-C-T
MyVariant Identifiers: chr14:g.24725218C>T (hg19) chr14:g.24256012C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256012C>T , CM000676.2:g.24256012C>T GRCh38
NC_000014.8:g.24725218C>T , CM000676.1:g.24725218C>T GRCh37
NC_000014.7:g.23795058C>T NCBI36
NG_007150.1:g.12155G>A
NG_007150.2:g.12155G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1468G>A MANE Select ENSP00000206765.6:p.Asp490Asn
ENST00000206765.10:c.1468G>A ENSP00000206765.6:p.Asp490Asn
ENST00000544573.5:c.142G>A ENSP00000439446.1:p.Asp48Asn
ENST00000559136.1:c.541G>A ENSP00000453337.1:p.Asp181Asn
NM_000359.2:c.1468G>A NP_000350.1:p.Asp490Asn
NM_000359.3:c.1468G>A MANE Select NP_000350.1:p.Asp490Asn
Search 100 bp 5'
Search 100 bp 3'