Canonical Allele Identifier: CA389256713
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24256051-C-A
MyVariant Identifiers: chr14:g.24725257C>A (hg19) chr14:g.24256051C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256051C>A , CM000676.2:g.24256051C>A GRCh38
NC_000014.8:g.24725257C>A , CM000676.1:g.24725257C>A GRCh37
NC_000014.7:g.23795097C>A NCBI36
NG_007150.1:g.12116G>T
NG_007150.2:g.12116G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1429G>T MANE Select ENSP00000206765.6:p.Val477Leu
ENST00000206765.10:c.1429G>T ENSP00000206765.6:p.Val477Leu
ENST00000544573.5:c.103G>T ENSP00000439446.1:p.Val35Leu
ENST00000559136.1:c.502G>T ENSP00000453337.1:p.Val168Leu
NM_000359.2:c.1429G>T NP_000350.1:p.Val477Leu
NM_000359.3:c.1429G>T MANE Select NP_000350.1:p.Val477Leu
Search 100 bp 5'
Search 100 bp 3'