Canonical Allele Identifier: CA257898467
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs529243676
gnomAD v3: 14-24259096-A-G
gnomAD v4: 14-24259096-A-G
MyVariant Identifiers: chr14:g.24728302A>G (hg19) chr14:g.24259096A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259096A>G , CM000676.2:g.24259096A>G GRCh38
NC_000014.8:g.24728302A>G , CM000676.1:g.24728302A>G GRCh37
NC_000014.7:g.23798142A>G NCBI36
NG_007150.1:g.9071T>C
NG_007150.2:g.9071T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1138T>C MANE Select ENSP00000206765.6:p.Phe380Leu
ENST00000206765.10:c.1138T>C ENSP00000206765.6:p.Phe380Leu
ENST00000544573.5:c.-28-708T>C ENSP00000439446.1:n.-28-708T>C
ENST00000559136.1:c.211T>C ENSP00000453337.1:p.Phe71Leu
NM_000359.2:c.1138T>C NP_000350.1:p.Phe380Leu
NM_000359.3:c.1138T>C MANE Select NP_000350.1:p.Phe380Leu
Search 100 bp 5'
Search 100 bp 3'