Canonical Allele Identifier: CA485665138
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24730908T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261702T>C , CM000676.2:g.24261702T>C GRCh38
NC_000014.8:g.24730908T>C , CM000676.1:g.24730908T>C GRCh37
NC_000014.7:g.23800748T>C NCBI36
NG_007150.1:g.6465A>G
NG_007150.2:g.6465A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.501A>G MANE Select ENSP00000206765.6:p.Leu167=
ENST00000206765.10:c.501A>G ENSP00000206765.6:p.Leu167=
ENST00000544573.5:c.-29+425A>G ENSP00000439446.1:n.-29+425A>G
NM_000359.2:c.501A>G NP_000350.1:p.Leu167=
NM_000359.3:c.501A>G MANE Select NP_000350.1:p.Leu167=
Search 100 bp 5'
Search 100 bp 3'