Canonical Allele Identifier: CA515387690

Gene: TYMP

Linked Data

• ClinVar Variation Id: 1650858
• ClinVar RCV Id: RCV002149238
• dbSNP Id: rs1470959449
• gnomAD v2: 22-50965009-C-T
• gnomAD v3: 22-50526580-C-T
• gnomAD v4: 22-50526580-C-T
• MyVariant Identifiers: chr22:g.50965009C>T (hg19) ; chr22:g.50526580C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526580C>T , CM000684.2:g.50526580C>T	GRCh38
NC_000022.10:g.50965009C>T , CM000684.1:g.50965009C>T	GRCh37
NC_000022.9:g.49311875C>T	NCBI36
NG_011860.1:g.8506G>A , LRG_727:g.8506G>A
NG_016235.1:g.4860G>A
NG_021419.1:g.23365C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.924G>A MANE Select	ENSP00000252029.3:p.Thr308=
ENST00000395680.6:c.924G>A	ENSP00000379037.1:p.Thr308=
ENST00000395681.6:c.924G>A	ENSP00000379038.1:p.Thr308=
ENST00000650719.1:c.805G>A	ENSP00000498276.1:p.Ala269Thr
ENST00000651401.1:c.408G>A	ENSP00000499115.1:p.Thr136=
ENST00000652401.1:c.425G>A
ENST00000252029.7:c.924G>A	ENSP00000252029.3:p.Thr308=
ENST00000395678.7:c.924G>A	ENSP00000379036.3:p.Thr308=
ENST00000395680.5:c.924G>A	ENSP00000379037.1:p.Thr308=
ENST00000395681.5:c.924G>A	ENSP00000379038.1:p.Thr308=
ENST00000425169.1:c.825G>A	ENSP00000395875.1:p.Thr275=
ENST00000476284.1:n.930G>A
ENST00000487577.5:n.1211G>A
NM_001113755.2:c.924G>A	NP_001107227.1:p.Thr308=
NM_001113756.2:c.924G>A	NP_001107228.1:p.Thr308=
NM_001257988.1:c.924G>A , LRG_727t1:c.924G>A	NP_001244917.1:p.Thr308=
NM_001257989.1:c.924G>A , LRG_727t2:c.924G>A	NP_001244918.1:p.Thr308=
NM_001953.4:c.924G>A	NP_001944.1:p.Thr308=
NM_001113755.3:c.924G>A	NP_001107227.1:p.Thr308=
NM_001113756.3:c.924G>A	NP_001107228.1:p.Thr308=
NM_001953.5:c.924G>A MANE Select	NP_001944.1:p.Thr308=