Canonical Allele Identifier: CA389264972
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs777683020
gnomAD v3: 14-24259189-C-G
gnomAD v4: 14-24259189-C-G
MyVariant Identifiers: chr14:g.24728395C>G (hg19) chr14:g.24259189C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259189C>G , CM000676.2:g.24259189C>G GRCh38
NC_000014.8:g.24728395C>G , CM000676.1:g.24728395C>G GRCh37
NC_000014.7:g.23798235C>G NCBI36
NG_007150.1:g.8978G>C
NG_007150.2:g.8978G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1045G>C MANE Select ENSP00000206765.6:p.Gly349Arg
ENST00000206765.10:c.1045G>C ENSP00000206765.6:p.Gly349Arg
ENST00000544573.5:c.-28-801G>C ENSP00000439446.1:n.-28-801G>C
ENST00000559136.1:c.118G>C ENSP00000453337.1:p.Gly40Arg
NM_000359.2:c.1045G>C NP_000350.1:p.Gly349Arg
NM_000359.3:c.1045G>C MANE Select NP_000350.1:p.Gly349Arg
Search 100 bp 5'
Search 100 bp 3'