Canonical Allele Identifier: CA485663822
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1144112
ClinVar RCV Id: RCV001482510
dbSNP Id: rs1469836706
gnomAD v2: 14-24728288-G-A
gnomAD v4: 14-24259082-G-A
MyVariant Identifiers: chr14:g.24728288G>A (hg19) chr14:g.24259082G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24259082G>A , CM000676.2:g.24259082G>A GRCh38
NC_000014.8:g.24728288G>A , CM000676.1:g.24728288G>A GRCh37
NC_000014.7:g.23798128G>A NCBI36
NG_007150.1:g.9085C>T
NG_007150.2:g.9085C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1152C>T MANE Select ENSP00000206765.6:p.Thr384=
ENST00000206765.10:c.1152C>T ENSP00000206765.6:p.Thr384=
ENST00000544573.5:c.-28-694C>T ENSP00000439446.1:n.-28-694C>T
ENST00000559136.1:c.225C>T ENSP00000453337.1:p.Thr75=
NM_000359.2:c.1152C>T NP_000350.1:p.Thr384=
NM_000359.3:c.1152C>T MANE Select NP_000350.1:p.Thr384=
Search 100 bp 5'
Search 100 bp 3'