Canonical Allele Identifier: CA485663630
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24725258A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256052A>C , CM000676.2:g.24256052A>C GRCh38
NC_000014.8:g.24725258A>C , CM000676.1:g.24725258A>C GRCh37
NC_000014.7:g.23795098A>C NCBI36
NG_007150.1:g.12115T>G
NG_007150.2:g.12115T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1428T>G MANE Select ENSP00000206765.6:p.Ser476=
ENST00000206765.10:c.1428T>G ENSP00000206765.6:p.Ser476=
ENST00000544573.5:c.102T>G ENSP00000439446.1:p.Ser34=
ENST00000559136.1:c.501T>G ENSP00000453337.1:p.Ser167=
NM_000359.2:c.1428T>G NP_000350.1:p.Ser476=
NM_000359.3:c.1428T>G MANE Select NP_000350.1:p.Ser476=
Search 100 bp 5'
Search 100 bp 3'