Canonical Allele Identifier: CA389256432
Gene: TGM1 HGNC NCBI

Linked Data

gnomAD v4: 14-24256037-C-A
MyVariant Identifiers: chr14:g.24725243C>A (hg19) chr14:g.24256037C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256037C>A , CM000676.2:g.24256037C>A GRCh38
NC_000014.8:g.24725243C>A , CM000676.1:g.24725243C>A GRCh37
NC_000014.7:g.23795083C>A NCBI36
NG_007150.1:g.12130G>T
NG_007150.2:g.12130G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1443G>T MANE Select ENSP00000206765.6:p.Lys481Asn
ENST00000206765.10:c.1443G>T ENSP00000206765.6:p.Lys481Asn
ENST00000544573.5:c.117G>T ENSP00000439446.1:p.Lys39Asn
ENST00000559136.1:c.516G>T ENSP00000453337.1:p.Lys172Asn
NM_000359.2:c.1443G>T NP_000350.1:p.Lys481Asn
NM_000359.3:c.1443G>T MANE Select NP_000350.1:p.Lys481Asn
Search 100 bp 5'
Search 100 bp 3'