Canonical Allele Identifier: CA412201934

Gene: TYMP

Linked Data

• dbSNP Id: rs1319323449
• gnomAD v2: 22-50967579-C-T
• gnomAD v4: 22-50529150-C-T
• MyVariant Identifiers: chr22:g.50967579C>T (hg19) ; chr22:g.50529150C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529150C>T , CM000684.2:g.50529150C>T	GRCh38
NC_000022.10:g.50967579C>T , CM000684.1:g.50967579C>T	GRCh37
NC_000022.9:g.49314445C>T	NCBI36
NG_011860.1:g.5936G>A , LRG_727:g.5936G>A
NG_016235.1:g.2290G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.403G>A MANE Select	ENSP00000252029.3:p.Ala135Thr
ENST00000395680.6:c.403G>A	ENSP00000379037.1:p.Ala135Thr
ENST00000395681.6:c.403G>A	ENSP00000379038.1:p.Ala135Thr
ENST00000650719.1:c.403G>A	ENSP00000498276.1:p.Ala135Thr
ENST00000651095.1:n.542G>A
ENST00000651196.1:c.403G>A	ENSP00000499096.1:p.Ala135Thr
ENST00000651401.1:c.-1+754G>A	ENSP00000499115.1:n.-1+754G>A
ENST00000651906.1:n.522G>A
ENST00000652237.1:n.679G>A
ENST00000652352.1:c.151G>A	ENSP00000498579.1:p.Ala51Thr
ENST00000252029.7:c.403G>A	ENSP00000252029.3:p.Ala135Thr
ENST00000395678.7:c.403G>A	ENSP00000379036.3:p.Ala135Thr
ENST00000395680.5:c.403G>A	ENSP00000379037.1:p.Ala135Thr
ENST00000395681.5:c.403G>A	ENSP00000379038.1:p.Ala135Thr
ENST00000425169.1:c.403G>A	ENSP00000395875.1:p.Ala135Thr
ENST00000476284.1:n.528G>A
ENST00000487162.1:n.691G>A
ENST00000487577.5:n.690G>A
NM_001113755.2:c.403G>A	NP_001107227.1:p.Ala135Thr
NM_001113756.2:c.403G>A	NP_001107228.1:p.Ala135Thr
NM_001257988.1:c.403G>A , LRG_727t1:c.403G>A	NP_001244917.1:p.Ala135Thr
NM_001257989.1:c.403G>A , LRG_727t2:c.403G>A	NP_001244918.1:p.Ala135Thr
NM_001953.4:c.403G>A	NP_001944.1:p.Ala135Thr
NM_001113755.3:c.403G>A	NP_001107227.1:p.Ala135Thr
NM_001113756.3:c.403G>A	NP_001107228.1:p.Ala135Thr
NM_001953.5:c.403G>A MANE Select	NP_001944.1:p.Ala135Thr