Canonical Allele Identifier: CA401660158

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.840G>C (TYMS) MANE Select ENSP00000315644.10:p.Arg280Ser
ENST00000647584.2:c.*1410C>G (ENOSF1) MANE Select ENSP00000497230.2:n.*1410C>G
ENST00000323224.7:c.738G>C (TYMS) ENSP00000314727.7:p.Arg246Ser
ENST00000323250.9:c.591G>C (TYMS) ENSP00000314902.5:p.Arg197Ser
ENST00000323274.14:c.840G>C (TYMS) ENSP00000315644.10:p.Arg280Ser
ENST00000383578.7:c.*326C>G (ENOSF1) ENSP00000373072.3:n.*326C>G
ENST00000581920.1:n.418G>C (TYMS)
ENST00000584259.6:n.3769C>G (ENOSF1)
NM_001071.2:c.840G>C , LRG_783t1:c.840G>C (TYMS) NP_001062.1:p.Arg280Ser
NM_001126123.3:c.*326C>G (ENOSF1) NP_001119595.1:n.*326C>G
NM_017512.5:c.*1410C>G (ENOSF1) NP_059982.2:n.*1410C>G
NM_202758.3:c.*1410C>G (ENOSF1) NP_974487.1:n.*1410C>G
XR_243810.3:n.1694C>G (ENOSF1)
XR_243811.2:n.1719C>G (ENOSF1)
XR_430041.2:n.1814C>G (ENOSF1)
NM_001071.3:c.840G>C (TYMS) NP_001062.1:p.Arg280Ser
NM_001354867.1:c.738G>C (TYMS) NP_001341796.1:p.Arg246Ser
NM_001354868.1:c.591G>C (TYMS) NP_001341797.1:p.Arg197Ser
NR_148706.1:n.1619C>G (ENOSF1)
NR_148707.1:n.1735C>G (ENOSF1)
NR_148708.1:n.1983C>G (ENOSF1)
NR_148709.1:n.1669C>G (ENOSF1)
NR_148710.1:n.1695C>G (ENOSF1)
NR_148711.1:n.1546C>G (ENOSF1)
NR_148712.1:n.1879C>G (ENOSF1)
XM_024451242.1:c.459G>C (TYMS) XP_024307010.1:p.Arg153Ser
XR_002958180.1:n.1447C>G (ENOSF1)
XR_430041.4:n.1833C>G (ENOSF1)
NM_001071.4:c.840G>C (TYMS) MANE Select NP_001062.1:p.Arg280Ser
NM_017512.7:c.*1410C>G (ENOSF1) MANE Select NP_059982.2:n.*1410C>G
NM_001318760.2:c.*1410C>G (ENOSF1) NP_001305689.1:n.*1410C>G
NM_001354065.2:c.*1410C>G (ENOSF1) NP_001340994.1:n.*1410C>G
NM_001354066.2:c.*1410C>G (ENOSF1) NP_001340995.1:n.*1410C>G
NM_001354067.2:c.*1410C>G (ENOSF1) NP_001340996.1:n.*1410C>G
NM_001354068.2:c.*1410C>G (ENOSF1) NP_001340997.1:n.*1410C>G
NM_001354867.2:c.738G>C (TYMS) NP_001341796.1:p.Arg246Ser
NM_001354868.2:c.591G>C (TYMS) NP_001341797.1:p.Arg197Ser
NM_202758.5:c.*1410C>G (ENOSF1) NP_974487.2:n.*1410C>G
NR_148706.2:n.1585C>G (ENOSF1)
NR_148707.2:n.1701C>G (ENOSF1)
NR_148708.2:n.1949C>G (ENOSF1)
NR_148709.2:n.1635C>G (ENOSF1)
NR_148710.2:n.1661C>G (ENOSF1)
NR_148711.2:n.1512C>G (ENOSF1)
NR_148712.2:n.1845C>G (ENOSF1)