Canonical Allele Identifier: CA389255793
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24256005-G-C
MyVariant Identifiers: chr14:g.24725211G>C (hg19) chr14:g.24256005G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256005G>C , CM000676.2:g.24256005G>C GRCh38
NC_000014.8:g.24725211G>C , CM000676.1:g.24725211G>C GRCh37
NC_000014.7:g.23795051G>C NCBI36
NG_007150.1:g.12162C>G
NG_007150.2:g.12162C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1475C>G MANE Select ENSP00000206765.6:p.Pro492Arg
ENST00000206765.10:c.1475C>G ENSP00000206765.6:p.Pro492Arg
ENST00000544573.5:c.149C>G ENSP00000439446.1:p.Pro50Arg
ENST00000559136.1:c.548C>G ENSP00000453337.1:p.Pro183Arg
NM_000359.2:c.1475C>G NP_000350.1:p.Pro492Arg
NM_000359.3:c.1475C>G MANE Select NP_000350.1:p.Pro492Arg
Search 100 bp 5'
Search 100 bp 3'