Canonical Allele Identifier: CA401660095

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.672881T>A , CM000680.2:g.672881T>A GRCh38
NC_000018.9:g.672881T>A , CM000680.1:g.672881T>A GRCh37
NC_000018.8:g.662881T>A NCBI36
NG_028255.1:g.20278T>A , LRG_783:g.20278T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.826T>A (TYMS) MANE Select ENSP00000315644.10:p.Phe276Ile
ENST00000647584.2:c.*1424A>T (ENOSF1) MANE Select ENSP00000497230.2:n.*1424A>T
ENST00000323224.7:c.724T>A (TYMS) ENSP00000314727.7:p.Phe242Ile
ENST00000323250.9:c.577T>A (TYMS) ENSP00000314902.5:p.Phe193Ile
ENST00000323274.14:c.826T>A (TYMS) ENSP00000315644.10:p.Phe276Ile
ENST00000383578.7:c.*340A>T (ENOSF1) ENSP00000373072.3:n.*340A>T
ENST00000581920.1:n.404T>A (TYMS)
ENST00000584259.6:n.3783A>T (ENOSF1)
NM_001071.2:c.826T>A , LRG_783t1:c.826T>A (TYMS) NP_001062.1:p.Phe276Ile
NM_001126123.3:c.*340A>T (ENOSF1) NP_001119595.1:n.*340A>T
NM_017512.5:c.*1424A>T (ENOSF1) NP_059982.2:n.*1424A>T
NM_202758.3:c.*1424A>T (ENOSF1) NP_974487.1:n.*1424A>T
XR_243810.3:n.1708A>T (ENOSF1)
XR_243811.2:n.1733A>T (ENOSF1)
XR_430041.2:n.1828A>T (ENOSF1)
NM_001071.3:c.826T>A (TYMS) NP_001062.1:p.Phe276Ile
NM_001354867.1:c.724T>A (TYMS) NP_001341796.1:p.Phe242Ile
NM_001354868.1:c.577T>A (TYMS) NP_001341797.1:p.Phe193Ile
NR_148706.1:n.1633A>T (ENOSF1)
NR_148707.1:n.1749A>T (ENOSF1)
NR_148708.1:n.1997A>T (ENOSF1)
NR_148709.1:n.1683A>T (ENOSF1)
NR_148710.1:n.1709A>T (ENOSF1)
NR_148711.1:n.1560A>T (ENOSF1)
NR_148712.1:n.1893A>T (ENOSF1)
XM_024451242.1:c.445T>A (TYMS) XP_024307010.1:p.Phe149Ile
XR_002958180.1:n.1461A>T (ENOSF1)
XR_430041.4:n.1847A>T (ENOSF1)
NM_001071.4:c.826T>A (TYMS) MANE Select NP_001062.1:p.Phe276Ile
NM_017512.7:c.*1424A>T (ENOSF1) MANE Select NP_059982.2:n.*1424A>T
NM_001318760.2:c.*1424A>T (ENOSF1) NP_001305689.1:n.*1424A>T
NM_001354065.2:c.*1424A>T (ENOSF1) NP_001340994.1:n.*1424A>T
NM_001354066.2:c.*1424A>T (ENOSF1) NP_001340995.1:n.*1424A>T
NM_001354067.2:c.*1424A>T (ENOSF1) NP_001340996.1:n.*1424A>T
NM_001354068.2:c.*1424A>T (ENOSF1) NP_001340997.1:n.*1424A>T
NM_001354867.2:c.724T>A (TYMS) NP_001341796.1:p.Phe242Ile
NM_001354868.2:c.577T>A (TYMS) NP_001341797.1:p.Phe193Ile
NM_202758.5:c.*1424A>T (ENOSF1) NP_974487.2:n.*1424A>T
NR_148706.2:n.1599A>T (ENOSF1)
NR_148707.2:n.1715A>T (ENOSF1)
NR_148708.2:n.1963A>T (ENOSF1)
NR_148709.2:n.1649A>T (ENOSF1)
NR_148710.2:n.1675A>T (ENOSF1)
NR_148711.2:n.1526A>T (ENOSF1)
NR_148712.2:n.1859A>T (ENOSF1)