Canonical Allele Identifier: CA502635115

Linked Data

MyVariant Identifiers: chr18:g.672895G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.672895G>A , CM000680.2:g.672895G>A GRCh38
NC_000018.9:g.672895G>A , CM000680.1:g.672895G>A GRCh37
NC_000018.8:g.662895G>A NCBI36
NG_028255.1:g.20292G>A , LRG_783:g.20292G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.840G>A (TYMS) MANE Select ENSP00000315644.10:p.Arg280=
ENST00000647584.2:c.*1410C>T (ENOSF1) MANE Select ENSP00000497230.2:n.*1410C>T
ENST00000323224.7:c.738G>A (TYMS) ENSP00000314727.7:p.Arg246=
ENST00000323250.9:c.591G>A (TYMS) ENSP00000314902.5:p.Arg197=
ENST00000323274.14:c.840G>A (TYMS) ENSP00000315644.10:p.Arg280=
ENST00000383578.7:c.*326C>T (ENOSF1) ENSP00000373072.3:n.*326C>T
ENST00000581920.1:n.418G>A (TYMS)
ENST00000584259.6:n.3769C>T (ENOSF1)
NM_001071.2:c.840G>A , LRG_783t1:c.840G>A (TYMS) NP_001062.1:p.Arg280=
NM_001126123.3:c.*326C>T (ENOSF1) NP_001119595.1:n.*326C>T
NM_017512.5:c.*1410C>T (ENOSF1) NP_059982.2:n.*1410C>T
NM_202758.3:c.*1410C>T (ENOSF1) NP_974487.1:n.*1410C>T
XR_243810.3:n.1694C>T (ENOSF1)
XR_243811.2:n.1719C>T (ENOSF1)
XR_430041.2:n.1814C>T (ENOSF1)
NM_001071.3:c.840G>A (TYMS) NP_001062.1:p.Arg280=
NM_001354867.1:c.738G>A (TYMS) NP_001341796.1:p.Arg246=
NM_001354868.1:c.591G>A (TYMS) NP_001341797.1:p.Arg197=
NR_148706.1:n.1619C>T (ENOSF1)
NR_148707.1:n.1735C>T (ENOSF1)
NR_148708.1:n.1983C>T (ENOSF1)
NR_148709.1:n.1669C>T (ENOSF1)
NR_148710.1:n.1695C>T (ENOSF1)
NR_148711.1:n.1546C>T (ENOSF1)
NR_148712.1:n.1879C>T (ENOSF1)
XM_024451242.1:c.459G>A (TYMS) XP_024307010.1:p.Arg153=
XR_002958180.1:n.1447C>T (ENOSF1)
XR_430041.4:n.1833C>T (ENOSF1)
NM_001071.4:c.840G>A (TYMS) MANE Select NP_001062.1:p.Arg280=
NM_017512.7:c.*1410C>T (ENOSF1) MANE Select NP_059982.2:n.*1410C>T
NM_001318760.2:c.*1410C>T (ENOSF1) NP_001305689.1:n.*1410C>T
NM_001354065.2:c.*1410C>T (ENOSF1) NP_001340994.1:n.*1410C>T
NM_001354066.2:c.*1410C>T (ENOSF1) NP_001340995.1:n.*1410C>T
NM_001354067.2:c.*1410C>T (ENOSF1) NP_001340996.1:n.*1410C>T
NM_001354068.2:c.*1410C>T (ENOSF1) NP_001340997.1:n.*1410C>T
NM_001354867.2:c.738G>A (TYMS) NP_001341796.1:p.Arg246=
NM_001354868.2:c.591G>A (TYMS) NP_001341797.1:p.Arg197=
NM_202758.5:c.*1410C>T (ENOSF1) NP_974487.2:n.*1410C>T
NR_148706.2:n.1585C>T (ENOSF1)
NR_148707.2:n.1701C>T (ENOSF1)
NR_148708.2:n.1949C>T (ENOSF1)
NR_148709.2:n.1635C>T (ENOSF1)
NR_148710.2:n.1661C>T (ENOSF1)
NR_148711.2:n.1512C>T (ENOSF1)
NR_148712.2:n.1845C>T (ENOSF1)