Canonical Allele Identifier: CA389255773
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs1233357105
gnomAD v2: 14-24725207-G-T
gnomAD v3: 14-24256001-G-T
gnomAD v4: 14-24256001-G-T
MyVariant Identifiers: chr14:g.24725207G>T (hg19) chr14:g.24256001G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256001G>T , CM000676.2:g.24256001G>T GRCh38
NC_000014.8:g.24725207G>T , CM000676.1:g.24725207G>T GRCh37
NC_000014.7:g.23795047G>T NCBI36
NG_007150.1:g.12166C>A
NG_007150.2:g.12166C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1479C>A MANE Select ENSP00000206765.6:p.Phe493Leu
ENST00000206765.10:c.1479C>A ENSP00000206765.6:p.Phe493Leu
ENST00000544573.5:c.153C>A ENSP00000439446.1:p.Phe51Leu
ENST00000559136.1:c.552C>A ENSP00000453337.1:p.Phe184Leu
NM_000359.2:c.1479C>A NP_000350.1:p.Phe493Leu
NM_000359.3:c.1479C>A MANE Select NP_000350.1:p.Phe493Leu
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