Canonical Allele Identifier: CA2640777132

Linked Data

gnomAD v4: 18-673087-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.673087A>G , CM000680.2:g.673087A>G GRCh38
NC_000018.9:g.673087A>G , CM000680.1:g.673087A>G GRCh37
NC_000018.8:g.663087A>G NCBI36
NG_028255.1:g.20484A>G , LRG_783:g.20484A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.*90A>G (TYMS) MANE Select ENSP00000315644.10:n.*90A>G
ENST00000647584.2:c.*1218T>C (ENOSF1) MANE Select ENSP00000497230.2:n.*1218T>C
ENST00000323224.7:c.930A>G (TYMS) ENSP00000314727.7:n.930A>G
ENST00000323274.14:c.*90A>G (TYMS) ENSP00000315644.10:n.*90A>G
ENST00000383578.7:c.*145-11T>C (ENOSF1) ENSP00000373072.3:n.*145-11T>C
ENST00000581920.1:n.610A>G (TYMS)
ENST00000584259.6:n.3588-11T>C (ENOSF1)
NM_001071.2:c.*90A>G , LRG_783t1:c.*90A>G (TYMS) NP_001062.1:n.*90A>G
NM_001126123.3:c.*145-11T>C (ENOSF1) NP_001119595.1:n.*145-11T>C
NM_017512.5:c.*1218T>C (ENOSF1) NP_059982.2:n.*1218T>C
NM_202758.3:c.*1218T>C (ENOSF1) NP_974487.1:n.*1218T>C
XR_243810.3:n.1513-11T>C (ENOSF1)
XR_243811.2:n.1538-11T>C (ENOSF1)
XR_430041.2:n.1633-11T>C (ENOSF1)
NM_001071.3:c.*90A>G (TYMS) NP_001062.1:n.*90A>G
NM_001354867.1:c.*90A>G (TYMS) NP_001341796.1:n.*90A>G
NM_001354868.1:c.*90A>G (TYMS) NP_001341797.1:n.*90A>G
NR_148706.1:n.1438-11T>C (ENOSF1)
NR_148707.1:n.1554-11T>C (ENOSF1)
NR_148708.1:n.1802-11T>C (ENOSF1)
NR_148709.1:n.1488-11T>C (ENOSF1)
NR_148710.1:n.1514-11T>C (ENOSF1)
NR_148711.1:n.1365-11T>C (ENOSF1)
NR_148712.1:n.1698-11T>C (ENOSF1)
XM_024451242.1:c.*90A>G (TYMS) XP_024307010.1:n.*90A>G
XR_002958180.1:n.1266-11T>C (ENOSF1)
XR_430041.4:n.1652-11T>C (ENOSF1)
NM_001071.4:c.*90A>G (TYMS) MANE Select NP_001062.1:n.*90A>G
NM_017512.7:c.*1218T>C (ENOSF1) MANE Select NP_059982.2:n.*1218T>C
NM_001318760.2:c.*1218T>C (ENOSF1) NP_001305689.1:n.*1218T>C
NM_001354065.2:c.*1218T>C (ENOSF1) NP_001340994.1:n.*1218T>C
NM_001354066.2:c.*1218T>C (ENOSF1) NP_001340995.1:n.*1218T>C
NM_001354067.2:c.*1218T>C (ENOSF1) NP_001340996.1:n.*1218T>C
NM_001354068.2:c.*1218T>C (ENOSF1) NP_001340997.1:n.*1218T>C
NM_001354867.2:c.*90A>G (TYMS) NP_001341796.1:n.*90A>G
NM_001354868.2:c.*90A>G (TYMS) NP_001341797.1:n.*90A>G
NM_202758.5:c.*1218T>C (ENOSF1) NP_974487.2:n.*1218T>C
NR_148706.2:n.1404-11T>C (ENOSF1)
NR_148707.2:n.1520-11T>C (ENOSF1)
NR_148708.2:n.1768-11T>C (ENOSF1)
NR_148709.2:n.1454-11T>C (ENOSF1)
NR_148710.2:n.1480-11T>C (ENOSF1)
NR_148711.2:n.1331-11T>C (ENOSF1)
NR_148712.2:n.1664-11T>C (ENOSF1)