Canonical Allele Identifier: CA325565168

Gene: TYMP

Linked Data

• dbSNP Id: rs919837250
• gnomAD v2: 22-50967566-T-C
• gnomAD v4: 22-50529137-T-C
• MyVariant Identifiers: chr22:g.50967566T>C (hg19) ; chr22:g.50529137T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529137T>C , CM000684.2:g.50529137T>C	GRCh38
NC_000022.10:g.50967566T>C , CM000684.1:g.50967566T>C	GRCh37
NC_000022.9:g.49314432T>C	NCBI36
NG_011860.1:g.5949A>G , LRG_727:g.5949A>G
NG_016235.1:g.2303A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.416A>G MANE Select	ENSP00000252029.3:p.Lys139Arg
ENST00000395680.6:c.416A>G	ENSP00000379037.1:p.Lys139Arg
ENST00000395681.6:c.416A>G	ENSP00000379038.1:p.Lys139Arg
ENST00000650719.1:c.416A>G	ENSP00000498276.1:p.Lys139Arg
ENST00000651095.1:n.555A>G
ENST00000651401.1:c.-1+767A>G	ENSP00000499115.1:n.-1+767A>G
ENST00000651906.1:n.535A>G
ENST00000652237.1:n.692A>G
ENST00000652352.1:c.164A>G	ENSP00000498579.1:p.Lys55Arg
ENST00000252029.7:c.416A>G	ENSP00000252029.3:p.Lys139Arg
ENST00000395678.7:c.416A>G	ENSP00000379036.3:p.Lys139Arg
ENST00000395680.5:c.416A>G	ENSP00000379037.1:p.Lys139Arg
ENST00000395681.5:c.416A>G	ENSP00000379038.1:p.Lys139Arg
ENST00000425169.1:c.416A>G	ENSP00000395875.1:p.Lys139Arg
ENST00000476284.1:n.541A>G
ENST00000487162.1:n.704A>G
ENST00000487577.5:n.703A>G
NM_001113755.2:c.416A>G	NP_001107227.1:p.Lys139Arg
NM_001113756.2:c.416A>G	NP_001107228.1:p.Lys139Arg
NM_001257988.1:c.416A>G , LRG_727t1:c.416A>G	NP_001244917.1:p.Lys139Arg
NM_001257989.1:c.416A>G , LRG_727t2:c.416A>G	NP_001244918.1:p.Lys139Arg
NM_001953.4:c.416A>G	NP_001944.1:p.Lys139Arg
NM_001113755.3:c.416A>G	NP_001107227.1:p.Lys139Arg
NM_001113756.3:c.416A>G	NP_001107228.1:p.Lys139Arg
NM_001953.5:c.416A>G MANE Select	NP_001944.1:p.Lys139Arg