Canonical Allele Identifier: CA389278578
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24731039G>T (hg19) chr14:g.24261833G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261833G>T , CM000676.2:g.24261833G>T GRCh38
NC_000014.8:g.24731039G>T , CM000676.1:g.24731039G>T GRCh37
NC_000014.7:g.23800879G>T NCBI36
NG_007150.1:g.6334C>A
NG_007150.2:g.6334C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.370C>A MANE Select ENSP00000206765.6:p.Gln124Lys
ENST00000206765.10:c.370C>A ENSP00000206765.6:p.Gln124Lys
ENST00000544573.5:c.-29+294C>A ENSP00000439446.1:n.-29+294C>A
ENST00000558074.1:c.370C>A ENSP00000453840.1:p.Gln124Lys
NM_000359.2:c.370C>A NP_000350.1:p.Gln124Lys
NM_000359.3:c.370C>A MANE Select NP_000350.1:p.Gln124Lys
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