Canonical Allele Identifier: CA401660172

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.672897T>G , CM000680.2:g.672897T>G GRCh38
NC_000018.9:g.672897T>G , CM000680.1:g.672897T>G GRCh37
NC_000018.8:g.662897T>G NCBI36
NG_028255.1:g.20294T>G , LRG_783:g.20294T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.842T>G (TYMS) MANE Select ENSP00000315644.10:p.Ile281Ser
ENST00000647584.2:c.*1408A>C (ENOSF1) MANE Select ENSP00000497230.2:n.*1408A>C
ENST00000323224.7:c.740T>G (TYMS) ENSP00000314727.7:p.Ile247Ser
ENST00000323250.9:c.593T>G (TYMS) ENSP00000314902.5:p.Ile198Ser
ENST00000323274.14:c.842T>G (TYMS) ENSP00000315644.10:p.Ile281Ser
ENST00000383578.7:c.*324A>C (ENOSF1) ENSP00000373072.3:n.*324A>C
ENST00000581920.1:n.420T>G (TYMS)
ENST00000584259.6:n.3767A>C (ENOSF1)
NM_001071.2:c.842T>G , LRG_783t1:c.842T>G (TYMS) NP_001062.1:p.Ile281Ser
NM_001126123.3:c.*324A>C (ENOSF1) NP_001119595.1:n.*324A>C
NM_017512.5:c.*1408A>C (ENOSF1) NP_059982.2:n.*1408A>C
NM_202758.3:c.*1408A>C (ENOSF1) NP_974487.1:n.*1408A>C
XR_243810.3:n.1692A>C (ENOSF1)
XR_243811.2:n.1717A>C (ENOSF1)
XR_430041.2:n.1812A>C (ENOSF1)
NM_001071.3:c.842T>G (TYMS) NP_001062.1:p.Ile281Ser
NM_001354867.1:c.740T>G (TYMS) NP_001341796.1:p.Ile247Ser
NM_001354868.1:c.593T>G (TYMS) NP_001341797.1:p.Ile198Ser
NR_148706.1:n.1617A>C (ENOSF1)
NR_148707.1:n.1733A>C (ENOSF1)
NR_148708.1:n.1981A>C (ENOSF1)
NR_148709.1:n.1667A>C (ENOSF1)
NR_148710.1:n.1693A>C (ENOSF1)
NR_148711.1:n.1544A>C (ENOSF1)
NR_148712.1:n.1877A>C (ENOSF1)
XM_024451242.1:c.461T>G (TYMS) XP_024307010.1:p.Ile154Ser
XR_002958180.1:n.1445A>C (ENOSF1)
XR_430041.4:n.1831A>C (ENOSF1)
NM_001071.4:c.842T>G (TYMS) MANE Select NP_001062.1:p.Ile281Ser
NM_017512.7:c.*1408A>C (ENOSF1) MANE Select NP_059982.2:n.*1408A>C
NM_001318760.2:c.*1408A>C (ENOSF1) NP_001305689.1:n.*1408A>C
NM_001354065.2:c.*1408A>C (ENOSF1) NP_001340994.1:n.*1408A>C
NM_001354066.2:c.*1408A>C (ENOSF1) NP_001340995.1:n.*1408A>C
NM_001354067.2:c.*1408A>C (ENOSF1) NP_001340996.1:n.*1408A>C
NM_001354068.2:c.*1408A>C (ENOSF1) NP_001340997.1:n.*1408A>C
NM_001354867.2:c.740T>G (TYMS) NP_001341796.1:p.Ile247Ser
NM_001354868.2:c.593T>G (TYMS) NP_001341797.1:p.Ile198Ser
NM_202758.5:c.*1408A>C (ENOSF1) NP_974487.2:n.*1408A>C
NR_148706.2:n.1583A>C (ENOSF1)
NR_148707.2:n.1699A>C (ENOSF1)
NR_148708.2:n.1947A>C (ENOSF1)
NR_148709.2:n.1633A>C (ENOSF1)
NR_148710.2:n.1659A>C (ENOSF1)
NR_148711.2:n.1510A>C (ENOSF1)
NR_148712.2:n.1843A>C (ENOSF1)