Canonical Allele Identifier: CA389276743
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs1210676541
gnomAD v2: 14-24730904-T-C
gnomAD v4: 14-24261698-T-C
MyVariant Identifiers: chr14:g.24730904T>C (hg19) chr14:g.24261698T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261698T>C , CM000676.2:g.24261698T>C GRCh38
NC_000014.8:g.24730904T>C , CM000676.1:g.24730904T>C GRCh37
NC_000014.7:g.23800744T>C NCBI36
NG_007150.1:g.6469A>G
NG_007150.2:g.6469A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.505A>G MANE Select ENSP00000206765.6:p.Ile169Val
ENST00000206765.10:c.505A>G ENSP00000206765.6:p.Ile169Val
ENST00000544573.5:c.-29+429A>G ENSP00000439446.1:n.-29+429A>G
NM_000359.2:c.505A>G NP_000350.1:p.Ile169Val
NM_000359.3:c.505A>G MANE Select NP_000350.1:p.Ile169Val
Search 100 bp 5'
Search 100 bp 3'