Canonical Allele Identifier: CA7521189

Gene: TGM5

Linked Data

• ClinVar Variation Id: 886452
• ClinVar RCV Id: RCV001118653 ; RCV002269336 ; RCV003973088
• dbSNP Id: rs144575810
• ExAC: 15:43544969 C / T
• gnomAD v2: 15-43544969-C-T
• gnomAD v3: 15-43252771-C-T
• gnomAD v4: 15-43252771-C-T
• COSMIC: COSM1372986
• MyVariant Identifiers: chr15:g.43544969C>T (hg19) ; chr15:g.43252771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.43252771C>T , CM000677.2:g.43252771C>T	GRCh38
NC_000015.9:g.43544969C>T , CM000677.1:g.43544969C>T	GRCh37
NC_000015.8:g.41332261C>T	NCBI36
NG_016124.1:g.19087G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220420.10:c.850G>A MANE Select	ENSP00000220420.5:p.Val284Ile
ENST00000635871.1:n.319G>A
ENST00000220420.9:c.850G>A	ENSP00000220420.5:p.Val284Ile
ENST00000349114.8:c.604G>A	ENSP00000220419.8:p.Val202Ile
ENST00000610827.4:c.847G>A	ENSP00000479732.1:p.Val283Ile
ENST00000611276.4:c.601G>A	ENSP00000482542.1:p.Val201Ile
ENST00000622115.1:c.853G>A	ENSP00000479638.1:p.Val285Ile
NM_004245.3:c.604G>A	NP_004236.1:p.Val202Ile
NM_201631.3:c.850G>A	NP_963925.2:p.Val284Ile
XM_011522229.1:c.850G>A	XP_011520531.1:p.Val284Ile
XR_931948.1:n.1024G>A
NM_004245.4:c.604G>A	NP_004236.1:p.Val202Ile
NM_201631.4:c.850G>A MANE Select	NP_963925.2:p.Val284Ile