Canonical Allele Identifier: CA401670013

Gene: TYMS

Linked Data

• gnomAD v4: 18-662177-A-G
• MyVariant Identifiers: chr18:g.662177A>G (hg19) ; chr18:g.662177A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.662177A>G , CM000680.2:g.662177A>G	GRCh38
NC_000018.9:g.662177A>G , CM000680.1:g.662177A>G	GRCh37
NC_000018.8:g.652177A>G	NCBI36
NG_028255.1:g.9574A>G , LRG_783:g.9574A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323274.15:c.311A>G MANE Select	ENSP00000315644.10:p.Lys104Arg
ENST00000323224.7:c.311A>G	ENSP00000314727.7:p.Lys104Arg
ENST00000323250.9:c.205+4230A>G	ENSP00000314902.5:n.205+4230A>G
ENST00000323274.14:c.311A>G	ENSP00000315644.10:p.Lys104Arg
ENST00000579128.1:n.389A>G
NM_001071.2:c.311A>G , LRG_783t1:c.311A>G	NP_001062.1:p.Lys104Arg
NM_001071.3:c.311A>G	NP_001062.1:p.Lys104Arg
NM_001354867.1:c.311A>G	NP_001341796.1:p.Lys104Arg
NM_001354868.1:c.205+4230A>G	NP_001341797.1:n.205+4230A>G
NM_001071.4:c.311A>G MANE Select	NP_001062.1:p.Lys104Arg
NM_001354867.2:c.311A>G	NP_001341796.1:p.Lys104Arg
NM_001354868.2:c.205+4230A>G	NP_001341797.1:n.205+4230A>G