Canonical Allele Identifier: CA515275770

Gene: TYMP

Linked Data

• ClinVar Variation Id: 1104475
• ClinVar RCV Id: RCV001428528
• dbSNP Id: rs2069504074
• gnomAD v4: 22-50529316-T-A
• MyVariant Identifiers: chr22:g.50967745T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529316T>A , CM000684.2:g.50529316T>A	GRCh38
NC_000022.10:g.50967745T>A , CM000684.1:g.50967745T>A	GRCh37
NC_000022.9:g.49314611T>A	NCBI36
NG_011860.1:g.5770A>T , LRG_727:g.5770A>T
NG_016235.1:g.2124A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.237A>T MANE Select	ENSP00000252029.3:p.Arg79=
ENST00000395680.6:c.237A>T	ENSP00000379037.1:p.Arg79=
ENST00000395681.6:c.237A>T	ENSP00000379038.1:p.Arg79=
ENST00000650719.1:c.237A>T	ENSP00000498276.1:p.Arg79=
ENST00000651095.1:n.376A>T
ENST00000651196.1:c.237A>T	ENSP00000499096.1:p.Arg79=
ENST00000651401.1:c.-1+588A>T	ENSP00000499115.1:n.-1+588A>T
ENST00000651906.1:n.356A>T
ENST00000652237.1:n.513A>T
ENST00000252029.7:c.237A>T	ENSP00000252029.3:p.Arg79=
ENST00000395678.7:c.237A>T	ENSP00000379036.3:p.Arg79=
ENST00000395680.5:c.237A>T	ENSP00000379037.1:p.Arg79=
ENST00000395681.5:c.237A>T	ENSP00000379038.1:p.Arg79=
ENST00000425169.1:c.237A>T	ENSP00000395875.1:p.Arg79=
ENST00000476284.1:n.362A>T
ENST00000487162.1:n.525A>T
ENST00000487577.5:n.524A>T
NM_001113755.2:c.237A>T	NP_001107227.1:p.Arg79=
NM_001113756.2:c.237A>T	NP_001107228.1:p.Arg79=
NM_001257988.1:c.237A>T , LRG_727t1:c.237A>T	NP_001244917.1:p.Arg79=
NM_001257989.1:c.237A>T , LRG_727t2:c.237A>T	NP_001244918.1:p.Arg79=
NM_001953.4:c.237A>T	NP_001944.1:p.Arg79=
NM_001113755.3:c.237A>T	NP_001107227.1:p.Arg79=
NM_001113756.3:c.237A>T	NP_001107228.1:p.Arg79=
NM_001953.5:c.237A>T MANE Select	NP_001944.1:p.Arg79=