Canonical Allele Identifier: CA502635101

Linked Data

MyVariant Identifiers: chr18:g.672889G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.672889G>A , CM000680.2:g.672889G>A GRCh38
NC_000018.9:g.672889G>A , CM000680.1:g.672889G>A GRCh37
NC_000018.8:g.662889G>A NCBI36
NG_028255.1:g.20286G>A , LRG_783:g.20286G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.834G>A (TYMS) MANE Select ENSP00000315644.10:p.Lys278=
ENST00000647584.2:c.*1416C>T (ENOSF1) MANE Select ENSP00000497230.2:n.*1416C>T
ENST00000323224.7:c.732G>A (TYMS) ENSP00000314727.7:p.Lys244=
ENST00000323250.9:c.585G>A (TYMS) ENSP00000314902.5:p.Lys195=
ENST00000323274.14:c.834G>A (TYMS) ENSP00000315644.10:p.Lys278=
ENST00000383578.7:c.*332C>T (ENOSF1) ENSP00000373072.3:n.*332C>T
ENST00000581920.1:n.412G>A (TYMS)
ENST00000584259.6:n.3775C>T (ENOSF1)
NM_001071.2:c.834G>A , LRG_783t1:c.834G>A (TYMS) NP_001062.1:p.Lys278=
NM_001126123.3:c.*332C>T (ENOSF1) NP_001119595.1:n.*332C>T
NM_017512.5:c.*1416C>T (ENOSF1) NP_059982.2:n.*1416C>T
NM_202758.3:c.*1416C>T (ENOSF1) NP_974487.1:n.*1416C>T
XR_243810.3:n.1700C>T (ENOSF1)
XR_243811.2:n.1725C>T (ENOSF1)
XR_430041.2:n.1820C>T (ENOSF1)
NM_001071.3:c.834G>A (TYMS) NP_001062.1:p.Lys278=
NM_001354867.1:c.732G>A (TYMS) NP_001341796.1:p.Lys244=
NM_001354868.1:c.585G>A (TYMS) NP_001341797.1:p.Lys195=
NR_148706.1:n.1625C>T (ENOSF1)
NR_148707.1:n.1741C>T (ENOSF1)
NR_148708.1:n.1989C>T (ENOSF1)
NR_148709.1:n.1675C>T (ENOSF1)
NR_148710.1:n.1701C>T (ENOSF1)
NR_148711.1:n.1552C>T (ENOSF1)
NR_148712.1:n.1885C>T (ENOSF1)
XM_024451242.1:c.453G>A (TYMS) XP_024307010.1:p.Lys151=
XR_002958180.1:n.1453C>T (ENOSF1)
XR_430041.4:n.1839C>T (ENOSF1)
NM_001071.4:c.834G>A (TYMS) MANE Select NP_001062.1:p.Lys278=
NM_017512.7:c.*1416C>T (ENOSF1) MANE Select NP_059982.2:n.*1416C>T
NM_001318760.2:c.*1416C>T (ENOSF1) NP_001305689.1:n.*1416C>T
NM_001354065.2:c.*1416C>T (ENOSF1) NP_001340994.1:n.*1416C>T
NM_001354066.2:c.*1416C>T (ENOSF1) NP_001340995.1:n.*1416C>T
NM_001354067.2:c.*1416C>T (ENOSF1) NP_001340996.1:n.*1416C>T
NM_001354068.2:c.*1416C>T (ENOSF1) NP_001340997.1:n.*1416C>T
NM_001354867.2:c.732G>A (TYMS) NP_001341796.1:p.Lys244=
NM_001354868.2:c.585G>A (TYMS) NP_001341797.1:p.Lys195=
NM_202758.5:c.*1416C>T (ENOSF1) NP_974487.2:n.*1416C>T
NR_148706.2:n.1591C>T (ENOSF1)
NR_148707.2:n.1707C>T (ENOSF1)
NR_148708.2:n.1955C>T (ENOSF1)
NR_148709.2:n.1641C>T (ENOSF1)
NR_148710.2:n.1667C>T (ENOSF1)
NR_148711.2:n.1518C>T (ENOSF1)
NR_148712.2:n.1851C>T (ENOSF1)