Canonical Allele Identifier: CA2279756948

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.673016C= , CM000680.2:g.673016C= GRCh38
NC_000018.9:g.673016C= , CM000680.1:g.673016C= GRCh37
NC_000018.8:g.663016C= NCBI36
NG_028255.1:g.20413C= , LRG_783:g.20413C=

Transcript Alleles

HGVS Amino-acid Change
NM_001071.4:c.*19C= (TYMS) MANE Select NP_001062.1:n.*19C=
NM_017512.7:c.*1289G= (ENOSF1) MANE Select NP_059982.2:n.*1289G=
ENST00000323274.15:c.*19C= (TYMS) MANE Select ENSP00000315644.10:n.*19C=
ENST00000647584.2:c.*1289G= (ENOSF1) MANE Select ENSP00000497230.2:n.*1289G=
NM_001071.2:c.*19C= , LRG_783t1:c.*19C= (TYMS) NP_001062.1:n.*19C=
NM_001071.3:c.*19C= (TYMS) NP_001062.1:n.*19C=
NM_001126123.3:c.*205G= (ENOSF1) NP_001119595.1:n.*205G=
NM_001318760.2:c.*1289G= (ENOSF1) NP_001305689.1:n.*1289G=
NM_001354065.2:c.*1289G= (ENOSF1) NP_001340994.1:n.*1289G=
NM_001354066.2:c.*1289G= (ENOSF1) NP_001340995.1:n.*1289G=
NM_001354067.2:c.*1289G= (ENOSF1) NP_001340996.1:n.*1289G=
NM_001354068.2:c.*1289G= (ENOSF1) NP_001340997.1:n.*1289G=
NM_001354867.1:c.*19C= (TYMS) NP_001341796.1:n.*19C=
NM_001354867.2:c.*19C= (TYMS) NP_001341796.1:n.*19C=
NM_001354868.1:c.*19C= (TYMS) NP_001341797.1:n.*19C=
NM_001354868.2:c.*19C= (TYMS) NP_001341797.1:n.*19C=
NM_017512.5:c.*1289G= (ENOSF1) NP_059982.2:n.*1289G=
NM_202758.3:c.*1289G= (ENOSF1) NP_974487.1:n.*1289G=
NM_202758.5:c.*1289G= (ENOSF1) NP_974487.2:n.*1289G=
NR_148706.1:n.1498G= (ENOSF1)
NR_148706.2:n.1464G= (ENOSF1)
NR_148707.1:n.1614G= (ENOSF1)
NR_148707.2:n.1580G= (ENOSF1)
NR_148708.1:n.1862G= (ENOSF1)
NR_148708.2:n.1828G= (ENOSF1)
NR_148709.1:n.1548G= (ENOSF1)
NR_148709.2:n.1514G= (ENOSF1)
NR_148710.1:n.1574G= (ENOSF1)
NR_148710.2:n.1540G= (ENOSF1)
NR_148711.1:n.1425G= (ENOSF1)
NR_148711.2:n.1391G= (ENOSF1)
NR_148712.1:n.1758G= (ENOSF1)
NR_148712.2:n.1724G= (ENOSF1)
ENST00000323224.7:c.859C= (TYMS) ENSP00000314727.7:n.859C=
ENST00000323274.14:c.*19C= (TYMS) ENSP00000315644.10:n.*19C=
ENST00000383578.7:c.*205G= (ENOSF1) ENSP00000373072.3:n.*205G=
ENST00000581920.1:n.539C= (TYMS)
ENST00000584259.6:n.3648G= (ENOSF1)
XM_024451242.1:c.*19C= (TYMS) XP_024307010.1:n.*19C=
XR_002958180.1:n.1326G= (ENOSF1)
XR_243810.3:n.1573G= (ENOSF1)
XR_243811.2:n.1598G= (ENOSF1)
XR_430041.2:n.1693G= (ENOSF1)
XR_430041.4:n.1712G= (ENOSF1)