Canonical Allele Identifier: CA324437

Gene: TYMP

Linked Data

• ClinVar Variation Id: 215327
• ClinVar RCV Id: RCV000199888
• dbSNP Id: rs767063709
• ExAC: 22:50967949 C / T
• gnomAD v2: 22-50967949-C-T
• gnomAD v3: 22-50529520-C-T
• gnomAD v4: 22-50529520-C-T
• MyVariant Identifiers: chr22:g.50967949C>T (hg19) ; chr22:g.50529520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529520C>T , CM000684.2:g.50529520C>T	GRCh38
NC_000022.10:g.50967949C>T , CM000684.1:g.50967949C>T	GRCh37
NC_000022.9:g.49314815C>T	NCBI36
NG_011860.1:g.5566G>A , LRG_727:g.5566G>A
NG_016235.1:g.1920G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.190G>A MANE Select	ENSP00000252029.3:p.Gly64Arg
ENST00000395680.6:c.190G>A	ENSP00000379037.1:p.Gly64Arg
ENST00000395681.6:c.190G>A	ENSP00000379038.1:p.Gly64Arg
ENST00000650719.1:c.190G>A	ENSP00000498276.1:p.Gly64Arg
ENST00000651095.1:n.329G>A
ENST00000651196.1:c.190G>A	ENSP00000499096.1:p.Gly64Arg
ENST00000651401.1:c.-1+384G>A	ENSP00000499115.1:n.-1+384G>A
ENST00000651906.1:n.309G>A
ENST00000652237.1:n.309G>A
ENST00000252029.7:c.190G>A	ENSP00000252029.3:p.Gly64Arg
ENST00000395678.7:c.190G>A	ENSP00000379036.3:p.Gly64Arg
ENST00000395680.5:c.190G>A	ENSP00000379037.1:p.Gly64Arg
ENST00000395681.5:c.190G>A	ENSP00000379038.1:p.Gly64Arg
ENST00000425169.1:c.190G>A	ENSP00000395875.1:p.Gly64Arg
ENST00000476284.1:n.315G>A
ENST00000487162.1:n.321G>A
ENST00000487577.5:n.477G>A
NM_001113755.2:c.190G>A	NP_001107227.1:p.Gly64Arg
NM_001113756.2:c.190G>A	NP_001107228.1:p.Gly64Arg
NM_001257988.1:c.190G>A , LRG_727t1:c.190G>A	NP_001244917.1:p.Gly64Arg
NM_001257989.1:c.190G>A , LRG_727t2:c.190G>A	NP_001244918.1:p.Gly64Arg
NM_001953.4:c.190G>A	NP_001944.1:p.Gly64Arg
NM_001113755.3:c.190G>A	NP_001107227.1:p.Gly64Arg
NM_001113756.3:c.190G>A	NP_001107228.1:p.Gly64Arg
NM_001953.5:c.190G>A MANE Select	NP_001944.1:p.Gly64Arg