Canonical Allele Identifier: CA389264143
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24259129-C-T
MyVariant Identifiers: chr14:g.24728335C>T (hg19) chr14:g.24259129C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259129C>T , CM000676.2:g.24259129C>T GRCh38
NC_000014.8:g.24728335C>T , CM000676.1:g.24728335C>T GRCh37
NC_000014.7:g.23798175C>T NCBI36
NG_007150.1:g.9038G>A
NG_007150.2:g.9038G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1105G>A MANE Select ENSP00000206765.6:p.Gly369Arg
ENST00000206765.10:c.1105G>A ENSP00000206765.6:p.Gly369Arg
ENST00000544573.5:c.-28-741G>A ENSP00000439446.1:n.-28-741G>A
ENST00000559136.1:c.178G>A ENSP00000453337.1:p.Gly60Arg
NM_000359.2:c.1105G>A NP_000350.1:p.Gly369Arg
NM_000359.3:c.1105G>A MANE Select NP_000350.1:p.Gly369Arg
Search 100 bp 5'
Search 100 bp 3'