Canonical Allele Identifier: CA7131201
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 752234
ClinVar RCV Id: RCV000929363 RCV001109806
dbSNP Id: rs758437844
ExAC: 14:24728378 C / T
gnomAD v2: 14-24728378-C-T
gnomAD v3: 14-24259172-C-T
gnomAD v4: 14-24259172-C-T
MyVariant Identifiers: chr14:g.24728378C>T (hg19) chr14:g.24259172C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259172C>T , CM000676.2:g.24259172C>T GRCh38
NC_000014.8:g.24728378C>T , CM000676.1:g.24728378C>T GRCh37
NC_000014.7:g.23798218C>T NCBI36
NG_007150.1:g.8995G>A
NG_007150.2:g.8995G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1062G>A MANE Select ENSP00000206765.6:p.Ala354=
ENST00000206765.10:c.1062G>A ENSP00000206765.6:p.Ala354=
ENST00000544573.5:c.-28-784G>A ENSP00000439446.1:n.-28-784G>A
ENST00000559136.1:c.135G>A ENSP00000453337.1:p.Ala45=
NM_000359.2:c.1062G>A NP_000350.1:p.Ala354=
NM_000359.3:c.1062G>A MANE Select NP_000350.1:p.Ala354=
Search 100 bp 5'
Search 100 bp 3'