Canonical Allele Identifier: CA401660093

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.672879C>T , CM000680.2:g.672879C>T GRCh38
NC_000018.9:g.672879C>T , CM000680.1:g.672879C>T GRCh37
NC_000018.8:g.662879C>T NCBI36
NG_028255.1:g.20276C>T , LRG_783:g.20276C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.824C>T (TYMS) MANE Select ENSP00000315644.10:p.Pro275Leu
ENST00000647584.2:c.*1426G>A (ENOSF1) MANE Select ENSP00000497230.2:n.*1426G>A
ENST00000323224.7:c.722C>T (TYMS) ENSP00000314727.7:p.Pro241Leu
ENST00000323250.9:c.575C>T (TYMS) ENSP00000314902.5:p.Pro192Leu
ENST00000323274.14:c.824C>T (TYMS) ENSP00000315644.10:p.Pro275Leu
ENST00000383578.7:c.*342G>A (ENOSF1) ENSP00000373072.3:n.*342G>A
ENST00000581920.1:n.402C>T (TYMS)
ENST00000584259.6:n.3785G>A (ENOSF1)
NM_001071.2:c.824C>T , LRG_783t1:c.824C>T (TYMS) NP_001062.1:p.Pro275Leu
NM_001126123.3:c.*342G>A (ENOSF1) NP_001119595.1:n.*342G>A
NM_017512.5:c.*1426G>A (ENOSF1) NP_059982.2:n.*1426G>A
NM_202758.3:c.*1426G>A (ENOSF1) NP_974487.1:n.*1426G>A
XR_243810.3:n.1710G>A (ENOSF1)
XR_243811.2:n.1735G>A (ENOSF1)
XR_430041.2:n.1830G>A (ENOSF1)
NM_001071.3:c.824C>T (TYMS) NP_001062.1:p.Pro275Leu
NM_001354867.1:c.722C>T (TYMS) NP_001341796.1:p.Pro241Leu
NM_001354868.1:c.575C>T (TYMS) NP_001341797.1:p.Pro192Leu
NR_148706.1:n.1635G>A (ENOSF1)
NR_148707.1:n.1751G>A (ENOSF1)
NR_148708.1:n.1999G>A (ENOSF1)
NR_148709.1:n.1685G>A (ENOSF1)
NR_148710.1:n.1711G>A (ENOSF1)
NR_148711.1:n.1562G>A (ENOSF1)
NR_148712.1:n.1895G>A (ENOSF1)
XM_024451242.1:c.443C>T (TYMS) XP_024307010.1:p.Pro148Leu
XR_002958180.1:n.1463G>A (ENOSF1)
XR_430041.4:n.1849G>A (ENOSF1)
NM_001071.4:c.824C>T (TYMS) MANE Select NP_001062.1:p.Pro275Leu
NM_017512.7:c.*1426G>A (ENOSF1) MANE Select NP_059982.2:n.*1426G>A
NM_001318760.2:c.*1426G>A (ENOSF1) NP_001305689.1:n.*1426G>A
NM_001354065.2:c.*1426G>A (ENOSF1) NP_001340994.1:n.*1426G>A
NM_001354066.2:c.*1426G>A (ENOSF1) NP_001340995.1:n.*1426G>A
NM_001354067.2:c.*1426G>A (ENOSF1) NP_001340996.1:n.*1426G>A
NM_001354068.2:c.*1426G>A (ENOSF1) NP_001340997.1:n.*1426G>A
NM_001354867.2:c.722C>T (TYMS) NP_001341796.1:p.Pro241Leu
NM_001354868.2:c.575C>T (TYMS) NP_001341797.1:p.Pro192Leu
NM_202758.5:c.*1426G>A (ENOSF1) NP_974487.2:n.*1426G>A
NR_148706.2:n.1601G>A (ENOSF1)
NR_148707.2:n.1717G>A (ENOSF1)
NR_148708.2:n.1965G>A (ENOSF1)
NR_148709.2:n.1651G>A (ENOSF1)
NR_148710.2:n.1677G>A (ENOSF1)
NR_148711.2:n.1528G>A (ENOSF1)
NR_148712.2:n.1861G>A (ENOSF1)