Canonical Allele Identifier: CA502650944

Linked Data

dbSNP Id: rs2853533
gnomAD v4: 18-658064-G-T
MyVariant Identifiers: chr18:g.658064G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.658064G>T , CM000680.2:g.658064G>T GRCh38
NC_000018.9:g.658064G>T , CM000680.1:g.658064G>T GRCh37
NC_000018.8:g.648064G>T NCBI36
NG_028255.1:g.5461G>T , LRG_783:g.5461G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000323274.15:c.205+117G>T (TYMS) MANE Select ENSP00000315644.10:n.205+117G>T
ENST00000323224.7:c.205+117G>T (TYMS) ENSP00000314727.7:n.205+117G>T
ENST00000323250.9:c.205+117G>T (TYMS) ENSP00000314902.5:n.205+117G>T
ENST00000323274.14:c.205+117G>T (TYMS) ENSP00000315644.10:n.205+117G>T
ENST00000579128.1:n.283+117G>T (TYMS)
NM_001012716.2:c.184C>A (TYMSOS) NP_001012734.2:p.Arg62Ser
NM_001071.2:c.205+117G>T , LRG_783t1:c.205+117G>T (TYMS) NP_001062.1:n.205+117G>T
NM_001071.3:c.205+117G>T (TYMS) NP_001062.1:n.205+117G>T
NM_001354867.1:c.205+117G>T (TYMS) NP_001341796.1:n.205+117G>T
NM_001354868.1:c.205+117G>T (TYMS) NP_001341797.1:n.205+117G>T
NM_001071.4:c.205+117G>T (TYMS) MANE Select NP_001062.1:n.205+117G>T
NM_001012716.3:c.184C>A (TYMSOS) NP_001012734.2:p.Arg62Ser
NM_001354867.2:c.205+117G>T (TYMS) NP_001341796.1:n.205+117G>T
NM_001354868.2:c.205+117G>T (TYMS) NP_001341797.1:n.205+117G>T
NR_171001.1:n.228C>A (TYMSOS)