Canonical Allele Identifier: CA389256620
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs748725054
gnomAD v2: 14-24725252-C-A
gnomAD v4: 14-24256046-C-A
MyVariant Identifiers: chr14:g.24725252C>A (hg19) chr14:g.24256046C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256046C>A , CM000676.2:g.24256046C>A GRCh38
NC_000014.8:g.24725252C>A , CM000676.1:g.24725252C>A GRCh37
NC_000014.7:g.23795092C>A NCBI36
NG_007150.1:g.12121G>T
NG_007150.2:g.12121G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1434G>T MANE Select ENSP00000206765.6:p.Glu478Asp
ENST00000206765.10:c.1434G>T ENSP00000206765.6:p.Glu478Asp
ENST00000544573.5:c.108G>T ENSP00000439446.1:p.Glu36Asp
ENST00000559136.1:c.507G>T ENSP00000453337.1:p.Glu169Asp
NM_000359.2:c.1434G>T NP_000350.1:p.Glu478Asp
NM_000359.3:c.1434G>T MANE Select NP_000350.1:p.Glu478Asp
Search 100 bp 5'
Search 100 bp 3'