Canonical Allele Identifier: CA7131189
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 312981
ClinVar RCV Id: RCV000323789 RCV000904899 RCV003910172
dbSNP Id: rs61747601
ExAC: 14:24728327 G / A
gnomAD v2: 14-24728327-G-A
gnomAD v3: 14-24259121-G-A
gnomAD v4: 14-24259121-G-A
MyVariant Identifiers: chr14:g.24728327G>A (hg19) chr14:g.24259121G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259121G>A , CM000676.2:g.24259121G>A GRCh38
NC_000014.8:g.24728327G>A , CM000676.1:g.24728327G>A GRCh37
NC_000014.7:g.23798167G>A NCBI36
NG_007150.1:g.9046C>T
NG_007150.2:g.9046C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1113C>T MANE Select ENSP00000206765.6:p.Ser371=
ENST00000206765.10:c.1113C>T ENSP00000206765.6:p.Ser371=
ENST00000544573.5:c.-28-733C>T ENSP00000439446.1:n.-28-733C>T
ENST00000559136.1:c.186C>T ENSP00000453337.1:p.Ser62=
NM_000359.2:c.1113C>T NP_000350.1:p.Ser371=
NM_000359.3:c.1113C>T MANE Select NP_000350.1:p.Ser371=
Search 100 bp 5'
Search 100 bp 3'