Canonical Allele Identifier: CA7131436
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 312988
ClinVar RCV Id: RCV000295561 RCV001516286
dbSNP Id: rs17102410
ExAC: 14:24731043 C / T
gnomAD v2: 14-24731043-C-T
gnomAD v3: 14-24261837-C-T
gnomAD v4: 14-24261837-C-T
MyVariant Identifiers: chr14:g.24731043C>T (hg19) chr14:g.24261837C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24261837C>T , CM000676.2:g.24261837C>T GRCh38
NC_000014.8:g.24731043C>T , CM000676.1:g.24731043C>T GRCh37
NC_000014.7:g.23800883C>T NCBI36
NG_007150.1:g.6330G>A
NG_007150.2:g.6330G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.366G>A MANE Select ENSP00000206765.6:p.Ser122=
ENST00000206765.10:c.366G>A ENSP00000206765.6:p.Ser122=
ENST00000544573.5:c.-29+290G>A ENSP00000439446.1:n.-29+290G>A
ENST00000558074.1:c.366G>A ENSP00000453840.1:p.Ser122=
NM_000359.2:c.366G>A NP_000350.1:p.Ser122=
NM_000359.3:c.366G>A MANE Select NP_000350.1:p.Ser122=
Search 100 bp 5'
Search 100 bp 3'