Canonical Allele Identifier: CA389255770
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24725206T>G (hg19) chr14:g.24256000T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256000T>G , CM000676.2:g.24256000T>G GRCh38
NC_000014.8:g.24725206T>G , CM000676.1:g.24725206T>G GRCh37
NC_000014.7:g.23795046T>G NCBI36
NG_007150.1:g.12167A>C
NG_007150.2:g.12167A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1480A>C MANE Select ENSP00000206765.6:p.Ile494Leu
ENST00000206765.10:c.1480A>C ENSP00000206765.6:p.Ile494Leu
ENST00000544573.5:c.154A>C ENSP00000439446.1:p.Ile52Leu
ENST00000559136.1:c.553A>C ENSP00000453337.1:p.Ile185Leu
NM_000359.2:c.1480A>C NP_000350.1:p.Ile494Leu
NM_000359.3:c.1480A>C MANE Select NP_000350.1:p.Ile494Leu
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Search 100 bp 3'