Canonical Allele Identifier: CA401670255

Gene: TYMS

Linked Data

• gnomAD v4: 18-662240-C-T
• MyVariant Identifiers: chr18:g.662240C>T (hg19) ; chr18:g.662240C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.662240C>T , CM000680.2:g.662240C>T	GRCh38
NC_000018.9:g.662240C>T , CM000680.1:g.662240C>T	GRCh37
NC_000018.8:g.652240C>T	NCBI36
NG_028255.1:g.9637C>T , LRG_783:g.9637C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323274.15:c.374C>T MANE Select	ENSP00000315644.10:p.Thr125Ile
ENST00000323224.7:c.374C>T	ENSP00000314727.7:p.Thr125Ile
ENST00000323250.9:c.205+4293C>T	ENSP00000314902.5:n.205+4293C>T
ENST00000323274.14:c.374C>T	ENSP00000315644.10:p.Thr125Ile
ENST00000579128.1:n.452C>T
NM_001071.2:c.374C>T , LRG_783t1:c.374C>T	NP_001062.1:p.Thr125Ile
NM_001071.3:c.374C>T	NP_001062.1:p.Thr125Ile
NM_001354867.1:c.374C>T	NP_001341796.1:p.Thr125Ile
NM_001354868.1:c.205+4293C>T	NP_001341797.1:n.205+4293C>T
NM_001071.4:c.374C>T MANE Select	NP_001062.1:p.Thr125Ile
NM_001354867.2:c.374C>T	NP_001341796.1:p.Thr125Ile
NM_001354868.2:c.205+4293C>T	NP_001341797.1:n.205+4293C>T