Canonical Allele Identifier: CA485664026
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24728429G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259223G>C , CM000676.2:g.24259223G>C GRCh38
NC_000014.8:g.24728429G>C , CM000676.1:g.24728429G>C GRCh37
NC_000014.7:g.23798269G>C NCBI36
NG_007150.1:g.8944C>G
NG_007150.2:g.8944C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1011C>G MANE Select ENSP00000206765.6:p.Val337=
ENST00000206765.10:c.1011C>G ENSP00000206765.6:p.Val337=
ENST00000544573.5:c.-28-835C>G ENSP00000439446.1:n.-28-835C>G
ENST00000559136.1:c.84C>G ENSP00000453337.1:p.Val28=
NM_000359.2:c.1011C>G NP_000350.1:p.Val337=
NM_000359.3:c.1011C>G MANE Select NP_000350.1:p.Val337=
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