Canonical Allele Identifier: CA10321553

Gene: TYMP

Linked Data

• dbSNP Id: rs771988352
• ExAC: 22:50965090 C / G
• gnomAD v2: 22-50965090-C-G
• MyVariant Identifiers: chr22:g.50965090C>G (hg19) ; chr22:g.50526661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526661C>G , CM000684.2:g.50526661C>G	GRCh38
NC_000022.10:g.50965090C>G , CM000684.1:g.50965090C>G	GRCh37
NC_000022.9:g.49311956C>G	NCBI36
NG_011860.1:g.8425G>C , LRG_727:g.8425G>C
NG_016235.1:g.4779G>C
NG_021419.1:g.23446C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.843G>C MANE Select	ENSP00000252029.3:p.Val281=
ENST00000395680.6:c.843G>C	ENSP00000379037.1:p.Val281=
ENST00000395681.6:c.843G>C	ENSP00000379038.1:p.Val281=
ENST00000650719.1:c.724G>C	ENSP00000498276.1:p.Gly242Arg
ENST00000651401.1:c.327G>C	ENSP00000499115.1:p.Val109=
ENST00000652401.1:c.344G>C
ENST00000252029.7:c.843G>C	ENSP00000252029.3:p.Val281=
ENST00000395678.7:c.843G>C	ENSP00000379036.3:p.Val281=
ENST00000395680.5:c.843G>C	ENSP00000379037.1:p.Val281=
ENST00000395681.5:c.843G>C	ENSP00000379038.1:p.Val281=
ENST00000425169.1:c.744G>C	ENSP00000395875.1:p.Val248=
ENST00000476284.1:n.849G>C
ENST00000487577.5:n.1130G>C
NM_001113755.2:c.843G>C	NP_001107227.1:p.Val281=
NM_001113756.2:c.843G>C	NP_001107228.1:p.Val281=
NM_001257988.1:c.843G>C , LRG_727t1:c.843G>C	NP_001244917.1:p.Val281=
NM_001257989.1:c.843G>C , LRG_727t2:c.843G>C	NP_001244918.1:p.Val281=
NM_001953.4:c.843G>C	NP_001944.1:p.Val281=
NM_001113755.3:c.843G>C	NP_001107227.1:p.Val281=
NM_001113756.3:c.843G>C	NP_001107228.1:p.Val281=
NM_001953.5:c.843G>C MANE Select	NP_001944.1:p.Val281=