Canonical Allele Identifier: CA7131083
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1068254
ClinVar RCV Id: RCV001379755
dbSNP Id: rs377119683
ExAC: 14:24725248 T / A
gnomAD v2: 14-24725248-T-A
gnomAD v3: 14-24256042-T-A
gnomAD v4: 14-24256042-T-A
MyVariant Identifiers: chr14:g.24725248T>A (hg19) chr14:g.24256042T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256042T>A , CM000676.2:g.24256042T>A GRCh38
NC_000014.8:g.24725248T>A , CM000676.1:g.24725248T>A GRCh37
NC_000014.7:g.23795088T>A NCBI36
NG_007150.1:g.12125A>T
NG_007150.2:g.12125A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1438A>T MANE Select ENSP00000206765.6:p.Ile480Phe
ENST00000206765.10:c.1438A>T ENSP00000206765.6:p.Ile480Phe
ENST00000544573.5:c.112A>T ENSP00000439446.1:p.Ile38Phe
ENST00000559136.1:c.511A>T ENSP00000453337.1:p.Ile171Phe
NM_000359.2:c.1438A>T NP_000350.1:p.Ile480Phe
NM_000359.3:c.1438A>T MANE Select NP_000350.1:p.Ile480Phe
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Search 100 bp 3'