Canonical Allele Identifier: CA257898500
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs2855005
MyVariant Identifiers: chr14:g.24728324G>T (hg19) chr14:g.24259118G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259118G>T , CM000676.2:g.24259118G>T GRCh38
NC_000014.8:g.24728324G>T , CM000676.1:g.24728324G>T GRCh37
NC_000014.7:g.23798164G>T NCBI36
NG_007150.1:g.9049C>A
NG_007150.2:g.9049C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1116C>A MANE Select ENSP00000206765.6:p.Val372=
ENST00000206765.10:c.1116C>A ENSP00000206765.6:p.Val372=
ENST00000544573.5:c.-28-730C>A ENSP00000439446.1:n.-28-730C>A
ENST00000559136.1:c.189C>A ENSP00000453337.1:p.Val63=
NM_000359.2:c.1116C>A NP_000350.1:p.Val372=
NM_000359.3:c.1116C>A MANE Select NP_000350.1:p.Val372=
Search 100 bp 5'
Search 100 bp 3'