Canonical Allele Identifier: CA7131080
Gene: TGM1 HGNC NCBI

Linked Data

ClinVar Variation Id: 883426
ClinVar RCV Id: RCV001113831 RCV001418954
dbSNP Id: rs768561754
ExAC: 14:24725219 G / A
gnomAD v2: 14-24725219-G-A
gnomAD v3: 14-24256013-G-A
gnomAD v4: 14-24256013-G-A
MyVariant Identifiers: chr14:g.24725219G>A (hg19) chr14:g.24256013G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.24256013G>A , CM000676.2:g.24256013G>A GRCh38
NC_000014.8:g.24725219G>A , CM000676.1:g.24725219G>A GRCh37
NC_000014.7:g.23795059G>A NCBI36
NG_007150.1:g.12154C>T
NG_007150.2:g.12154C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206765.11:c.1467C>T MANE Select ENSP00000206765.6:p.Tyr489=
ENST00000206765.10:c.1467C>T ENSP00000206765.6:p.Tyr489=
ENST00000544573.5:c.141C>T ENSP00000439446.1:p.Tyr47=
ENST00000559136.1:c.540C>T ENSP00000453337.1:p.Tyr180=
NM_000359.2:c.1467C>T NP_000350.1:p.Tyr489=
NM_000359.3:c.1467C>T MANE Select NP_000350.1:p.Tyr489=
Search 100 bp 5'
Search 100 bp 3'