Canonical Allele Identifier: CA485663916
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1104008
ClinVar RCV Id: RCV001427932
dbSNP Id: rs779287673
gnomAD v4: 14-24259160-G-A
MyVariant Identifiers: chr14:g.24728366G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259160G>A , CM000676.2:g.24259160G>A GRCh38
NC_000014.8:g.24728366G>A , CM000676.1:g.24728366G>A GRCh37
NC_000014.7:g.23798206G>A NCBI36
NG_007150.1:g.9007C>T
NG_007150.2:g.9007C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1074C>T MANE Select ENSP00000206765.6:p.Ser358=
ENST00000206765.10:c.1074C>T ENSP00000206765.6:p.Ser358=
ENST00000544573.5:c.-28-772C>T ENSP00000439446.1:n.-28-772C>T
ENST00000559136.1:c.147C>T ENSP00000453337.1:p.Ser49=
NM_000359.2:c.1074C>T NP_000350.1:p.Ser358=
NM_000359.3:c.1074C>T MANE Select NP_000350.1:p.Ser358=
Search 100 bp 5'
Search 100 bp 3'