Canonical Allele Identifier: CA389263822
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24728313T>A (hg19) chr14:g.24259107T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259107T>A , CM000676.2:g.24259107T>A GRCh38
NC_000014.8:g.24728313T>A , CM000676.1:g.24728313T>A GRCh37
NC_000014.7:g.23798153T>A NCBI36
NG_007150.1:g.9060A>T
NG_007150.2:g.9060A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1127A>T MANE Select ENSP00000206765.6:p.Gln376Leu
ENST00000206765.10:c.1127A>T ENSP00000206765.6:p.Gln376Leu
ENST00000544573.5:c.-28-719A>T ENSP00000439446.1:n.-28-719A>T
ENST00000559136.1:c.200A>T ENSP00000453337.1:p.Gln67Leu
NM_000359.2:c.1127A>T NP_000350.1:p.Gln376Leu
NM_000359.3:c.1127A>T MANE Select NP_000350.1:p.Gln376Leu
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