Canonical Allele Identifier: CA7131200
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs750591055
ExAC: 14:24728371 C / T
gnomAD v2: 14-24728371-C-T
gnomAD v4: 14-24259165-C-T
MyVariant Identifiers: chr14:g.24728371C>T (hg19) chr14:g.24259165C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259165C>T , CM000676.2:g.24259165C>T GRCh38
NC_000014.8:g.24728371C>T , CM000676.1:g.24728371C>T GRCh37
NC_000014.7:g.23798211C>T NCBI36
NG_007150.1:g.9002G>A
NG_007150.2:g.9002G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1069G>A MANE Select ENSP00000206765.6:p.Gly357Ser
ENST00000206765.10:c.1069G>A ENSP00000206765.6:p.Gly357Ser
ENST00000544573.5:c.-28-777G>A ENSP00000439446.1:n.-28-777G>A
ENST00000559136.1:c.142G>A ENSP00000453337.1:p.Gly48Ser
NM_000359.2:c.1069G>A NP_000350.1:p.Gly357Ser
NM_000359.3:c.1069G>A MANE Select NP_000350.1:p.Gly357Ser
Search 100 bp 5'
Search 100 bp 3'