Canonical Allele Identifier: CA2279747700

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.657685G>A , CM000680.2:g.657685G>A GRCh38
NC_000018.9:g.657685G>A , CM000680.1:g.657685G>A GRCh37
NC_000018.8:g.647685G>A NCBI36
NG_028255.1:g.5082G>A , LRG_783:g.5082G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.-58G>A (TYMS) MANE Select ENSP00000315644.10:n.-58G>A
ENST00000323274.14:c.-58G>A (TYMS) ENSP00000315644.10:n.-58G>A
ENST00000579128.1:n.21G>A (TYMS)
NM_001012716.2:c.*34+157C>T (TYMSOS) NP_001012734.2:n.*34+157C>T
NM_001071.2:c.-58G>A , LRG_783t1:c.-58G>A (TYMS) NP_001062.1:n.-58G>A
NM_001071.3:c.-58G>A (TYMS) NP_001062.1:n.-58G>A
NM_001354867.1:c.-58G>A (TYMS) NP_001341796.1:n.-58G>A
NM_001354868.1:c.-58G>A (TYMS) NP_001341797.1:n.-58G>A
NM_001071.4:c.-58G>A (TYMS) MANE Select NP_001062.1:n.-58G>A
NM_001012716.3:c.*34+157C>T (TYMSOS) NP_001012734.2:n.*34+157C>T
NM_001354867.2:c.-58G>A (TYMS) NP_001341796.1:n.-58G>A
NM_001354868.2:c.-58G>A (TYMS) NP_001341797.1:n.-58G>A
NR_171001.1:n.450+157C>T (TYMSOS)