Canonical Allele Identifier: CA389278630
Gene: TGM1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.24731044G>C (hg19) chr14:g.24261838G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261838G>C , CM000676.2:g.24261838G>C GRCh38
NC_000014.8:g.24731044G>C , CM000676.1:g.24731044G>C GRCh37
NC_000014.7:g.23800884G>C NCBI36
NG_007150.1:g.6329C>G
NG_007150.2:g.6329C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.365C>G MANE Select ENSP00000206765.6:p.Ser122Trp
ENST00000206765.10:c.365C>G ENSP00000206765.6:p.Ser122Trp
ENST00000544573.5:c.-29+289C>G ENSP00000439446.1:n.-29+289C>G
ENST00000558074.1:c.365C>G ENSP00000453840.1:p.Ser122Trp
NM_000359.2:c.365C>G NP_000350.1:p.Ser122Trp
NM_000359.3:c.365C>G MANE Select NP_000350.1:p.Ser122Trp
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