Canonical Allele Identifier: CA401660119

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.672885C>G , CM000680.2:g.672885C>G GRCh38
NC_000018.9:g.672885C>G , CM000680.1:g.672885C>G GRCh37
NC_000018.8:g.662885C>G NCBI36
NG_028255.1:g.20282C>G , LRG_783:g.20282C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.830C>G (TYMS) MANE Select ENSP00000315644.10:p.Pro277Arg
ENST00000647584.2:c.*1420G>C (ENOSF1) MANE Select ENSP00000497230.2:n.*1420G>C
ENST00000323224.7:c.728C>G (TYMS) ENSP00000314727.7:p.Pro243Arg
ENST00000323250.9:c.581C>G (TYMS) ENSP00000314902.5:p.Pro194Arg
ENST00000323274.14:c.830C>G (TYMS) ENSP00000315644.10:p.Pro277Arg
ENST00000383578.7:c.*336G>C (ENOSF1) ENSP00000373072.3:n.*336G>C
ENST00000581920.1:n.408C>G (TYMS)
ENST00000584259.6:n.3779G>C (ENOSF1)
NM_001071.2:c.830C>G , LRG_783t1:c.830C>G (TYMS) NP_001062.1:p.Pro277Arg
NM_001126123.3:c.*336G>C (ENOSF1) NP_001119595.1:n.*336G>C
NM_017512.5:c.*1420G>C (ENOSF1) NP_059982.2:n.*1420G>C
NM_202758.3:c.*1420G>C (ENOSF1) NP_974487.1:n.*1420G>C
XR_243810.3:n.1704G>C (ENOSF1)
XR_243811.2:n.1729G>C (ENOSF1)
XR_430041.2:n.1824G>C (ENOSF1)
NM_001071.3:c.830C>G (TYMS) NP_001062.1:p.Pro277Arg
NM_001354867.1:c.728C>G (TYMS) NP_001341796.1:p.Pro243Arg
NM_001354868.1:c.581C>G (TYMS) NP_001341797.1:p.Pro194Arg
NR_148706.1:n.1629G>C (ENOSF1)
NR_148707.1:n.1745G>C (ENOSF1)
NR_148708.1:n.1993G>C (ENOSF1)
NR_148709.1:n.1679G>C (ENOSF1)
NR_148710.1:n.1705G>C (ENOSF1)
NR_148711.1:n.1556G>C (ENOSF1)
NR_148712.1:n.1889G>C (ENOSF1)
XM_024451242.1:c.449C>G (TYMS) XP_024307010.1:p.Pro150Arg
XR_002958180.1:n.1457G>C (ENOSF1)
XR_430041.4:n.1843G>C (ENOSF1)
NM_001071.4:c.830C>G (TYMS) MANE Select NP_001062.1:p.Pro277Arg
NM_017512.7:c.*1420G>C (ENOSF1) MANE Select NP_059982.2:n.*1420G>C
NM_001318760.2:c.*1420G>C (ENOSF1) NP_001305689.1:n.*1420G>C
NM_001354065.2:c.*1420G>C (ENOSF1) NP_001340994.1:n.*1420G>C
NM_001354066.2:c.*1420G>C (ENOSF1) NP_001340995.1:n.*1420G>C
NM_001354067.2:c.*1420G>C (ENOSF1) NP_001340996.1:n.*1420G>C
NM_001354068.2:c.*1420G>C (ENOSF1) NP_001340997.1:n.*1420G>C
NM_001354867.2:c.728C>G (TYMS) NP_001341796.1:p.Pro243Arg
NM_001354868.2:c.581C>G (TYMS) NP_001341797.1:p.Pro194Arg
NM_202758.5:c.*1420G>C (ENOSF1) NP_974487.2:n.*1420G>C
NR_148706.2:n.1595G>C (ENOSF1)
NR_148707.2:n.1711G>C (ENOSF1)
NR_148708.2:n.1959G>C (ENOSF1)
NR_148709.2:n.1645G>C (ENOSF1)
NR_148710.2:n.1671G>C (ENOSF1)
NR_148711.2:n.1522G>C (ENOSF1)
NR_148712.2:n.1855G>C (ENOSF1)