Canonical Allele Identifier: CA412202036

Gene: TYMP

Linked Data

• gnomAD v4: 22-50529206-T-C
• MyVariant Identifiers: chr22:g.50967635T>C (hg19) ; chr22:g.50529206T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529206T>C , CM000684.2:g.50529206T>C	GRCh38
NC_000022.10:g.50967635T>C , CM000684.1:g.50967635T>C	GRCh37
NC_000022.9:g.49314501T>C	NCBI36
NG_011860.1:g.5880A>G , LRG_727:g.5880A>G
NG_016235.1:g.2234A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.347A>G MANE Select	ENSP00000252029.3:p.His116Arg
ENST00000395680.6:c.347A>G	ENSP00000379037.1:p.His116Arg
ENST00000395681.6:c.347A>G	ENSP00000379038.1:p.His116Arg
ENST00000650719.1:c.347A>G	ENSP00000498276.1:p.His116Arg
ENST00000651095.1:n.486A>G
ENST00000651196.1:c.347A>G	ENSP00000499096.1:p.His116Arg
ENST00000651401.1:c.-1+698A>G	ENSP00000499115.1:n.-1+698A>G
ENST00000651906.1:n.466A>G
ENST00000652237.1:n.623A>G
ENST00000652352.1:c.95A>G	ENSP00000498579.1:p.His32Arg
ENST00000252029.7:c.347A>G	ENSP00000252029.3:p.His116Arg
ENST00000395678.7:c.347A>G	ENSP00000379036.3:p.His116Arg
ENST00000395680.5:c.347A>G	ENSP00000379037.1:p.His116Arg
ENST00000395681.5:c.347A>G	ENSP00000379038.1:p.His116Arg
ENST00000425169.1:c.347A>G	ENSP00000395875.1:p.His116Arg
ENST00000476284.1:n.472A>G
ENST00000487162.1:n.635A>G
ENST00000487577.5:n.634A>G
NM_001113755.2:c.347A>G	NP_001107227.1:p.His116Arg
NM_001113756.2:c.347A>G	NP_001107228.1:p.His116Arg
NM_001257988.1:c.347A>G , LRG_727t1:c.347A>G	NP_001244917.1:p.His116Arg
NM_001257989.1:c.347A>G , LRG_727t2:c.347A>G	NP_001244918.1:p.His116Arg
NM_001953.4:c.347A>G	NP_001944.1:p.His116Arg
NM_001113755.3:c.347A>G	NP_001107227.1:p.His116Arg
NM_001113756.3:c.347A>G	NP_001107228.1:p.His116Arg
NM_001953.5:c.347A>G MANE Select	NP_001944.1:p.His116Arg