Canonical Allele Identifier: CA8867806
Gene: TYMS HGNC NCBI
COSMIC:
COSN505266
COSN17133131
COSN17133961
COSN17135752
COSN17136597
COSN17138511
COSN17139434
COSN17140313
COSN17141154
COSN17142327
COSN17143395
COSN17144228
COSN17145177
COSN17146101
COSN17147876
COSN17148752
COSN17150570
COSN17151553
COSN19731919
dbSNP:
1001761
gnomAD v2:
18:662103 G / A
gnomAD v3:
18:662103 G / A
gnomAD v4:
chr18-662103-G-A
Joint Max Group AF 0.77570387 (AFR)
Genomes Max Group AF 0.76888105 (AFR)
Exomes Max Group AF 0.77961825 (AFR)
MyVariant.info:
GRCh38 chr18:g.662103G>A
GRCh37 chr18:g.662103G>A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.662103G>A , CM000680.2:g.662103G>A GRCh38
NC_000018.9:g.662103G>A , CM000680.1:g.662103G>A GRCh37
NC_000018.8:g.652103G>A NCBI36
NG_028255.1:g.9500G>A , LRG_783:g.9500G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.280-43G>A MANE Select ENSP00000315644.10:n.280-43G>A
ENST00000323224.7:c.280-43G>A ENSP00000314727.7:n.280-43G>A
ENST00000323250.9:c.205+4156G>A ENSP00000314902.5:n.205+4156G>A
ENST00000323274.14:c.280-43G>A ENSP00000315644.10:n.280-43G>A
ENST00000579128.1:n.358-43G>A
NM_001071.2:c.280-43G>A , LRG_783t1:c.280-43G>A NP_001062.1:n.280-43G>A
NM_001071.3:c.280-43G>A NP_001062.1:n.280-43G>A
NM_001354867.1:c.280-43G>A NP_001341796.1:n.280-43G>A
NM_001354868.1:c.205+4156G>A NP_001341797.1:n.205+4156G>A
NM_001071.4:c.280-43G>A MANE Select NP_001062.1:n.280-43G>A
NM_001354867.2:c.280-43G>A NP_001341796.1:n.280-43G>A
NM_001354868.2:c.205+4156G>A NP_001341797.1:n.205+4156G>A
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