Canonical Allele Identifier: CA295420051
Gene: TYMS HGNC NCBI

Linked Data

dbSNP Id: rs185953635
gnomAD v3: 18-661940-G-A
gnomAD v4: 18-661940-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.661940G>A , CM000680.2:g.661940G>A GRCh38
NC_000018.9:g.661940G>A , CM000680.1:g.661940G>A GRCh37
NC_000018.8:g.651940G>A NCBI36
NG_028255.1:g.9337G>A , LRG_783:g.9337G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.280-206G>A MANE Select ENSP00000315644.10:n.280-206G>A
ENST00000323224.7:c.280-206G>A ENSP00000314727.7:n.280-206G>A
ENST00000323250.9:c.205+3993G>A ENSP00000314902.5:n.205+3993G>A
ENST00000323274.14:c.280-206G>A ENSP00000315644.10:n.280-206G>A
ENST00000579128.1:n.358-206G>A
NM_001071.2:c.280-206G>A , LRG_783t1:c.280-206G>A NP_001062.1:n.280-206G>A
NM_001071.3:c.280-206G>A NP_001062.1:n.280-206G>A
NM_001354867.1:c.280-206G>A NP_001341796.1:n.280-206G>A
NM_001354868.1:c.205+3993G>A NP_001341797.1:n.205+3993G>A
NM_001071.4:c.280-206G>A MANE Select NP_001062.1:n.280-206G>A
NM_001354867.2:c.280-206G>A NP_001341796.1:n.280-206G>A
NM_001354868.2:c.205+3993G>A NP_001341797.1:n.205+3993G>A