Canonical Allele Identifier: CA389276668
Gene: TGM1 HGNC NCBI

Linked Data

dbSNP Id: rs1272975872
gnomAD v2: 14-24730900-C-T
gnomAD v4: 14-24261694-C-T
MyVariant Identifiers: chr14:g.24730900C>T (hg19) chr14:g.24261694C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261694C>T , CM000676.2:g.24261694C>T GRCh38
NC_000014.8:g.24730900C>T , CM000676.1:g.24730900C>T GRCh37
NC_000014.7:g.23800740C>T NCBI36
NG_007150.1:g.6473G>A
NG_007150.2:g.6473G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000206765.11:c.508+1G>A MANE Select ENSP00000206765.6:n.508+1G>A
ENST00000206765.10:c.508+1G>A ENSP00000206765.6:n.508+1G>A
ENST00000544573.5:c.-29+433G>A ENSP00000439446.1:n.-29+433G>A
NM_000359.2:c.508+1G>A NP_000350.1:n.508+1G>A
NM_000359.3:c.508+1G>A MANE Select NP_000350.1:n.508+1G>A
Search 100 bp 5'
Search 100 bp 3'