Canonical Allele Identifier: CA389265326
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs1208419701
gnomAD v2: 14-24728425-T-G
gnomAD v3: 14-24259219-T-G
gnomAD v4: 14-24259219-T-G
MyVariant Identifiers: chr14:g.24728425T>G (hg19) chr14:g.24259219T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259219T>G , CM000676.2:g.24259219T>G GRCh38
NC_000014.8:g.24728425T>G , CM000676.1:g.24728425T>G GRCh37
NC_000014.7:g.23798265T>G NCBI36
NG_007150.1:g.8948A>C
NG_007150.2:g.8948A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1015A>C MANE Select ENSP00000206765.6:p.Ile339Leu
ENST00000206765.10:c.1015A>C ENSP00000206765.6:p.Ile339Leu
ENST00000544573.5:c.-28-831A>C ENSP00000439446.1:n.-28-831A>C
ENST00000559136.1:c.88A>C ENSP00000453337.1:p.Ile30Leu
NM_000359.2:c.1015A>C NP_000350.1:p.Ile339Leu
NM_000359.3:c.1015A>C MANE Select NP_000350.1:p.Ile339Leu
Search 100 bp 5'
Search 100 bp 3'