Canonical Allele Identifier: CA389256079
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24256019-C-T
MyVariant Identifiers: chr14:g.24725225C>T (hg19) chr14:g.24256019C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256019C>T , CM000676.2:g.24256019C>T GRCh38
NC_000014.8:g.24725225C>T , CM000676.1:g.24725225C>T GRCh37
NC_000014.7:g.23795065C>T NCBI36
NG_007150.1:g.12148G>A
NG_007150.2:g.12148G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1461G>A MANE Select ENSP00000206765.6:p.Met487Ile
ENST00000206765.10:c.1461G>A ENSP00000206765.6:p.Met487Ile
ENST00000544573.5:c.135G>A ENSP00000439446.1:p.Met45Ile
ENST00000559136.1:c.534G>A ENSP00000453337.1:p.Met178Ile
NM_000359.2:c.1461G>A NP_000350.1:p.Met487Ile
NM_000359.3:c.1461G>A MANE Select NP_000350.1:p.Met487Ile
Search 100 bp 5'
Search 100 bp 3'