Canonical Allele Identifier: CA502635118

Linked Data

MyVariant Identifiers: chr18:g.672898T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.672898T>C , CM000680.2:g.672898T>C GRCh38
NC_000018.9:g.672898T>C , CM000680.1:g.672898T>C GRCh37
NC_000018.8:g.662898T>C NCBI36
NG_028255.1:g.20295T>C , LRG_783:g.20295T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.843T>C (TYMS) MANE Select ENSP00000315644.10:p.Ile281=
ENST00000647584.2:c.*1407A>G (ENOSF1) MANE Select ENSP00000497230.2:n.*1407A>G
ENST00000323224.7:c.741T>C (TYMS) ENSP00000314727.7:p.Ile247=
ENST00000323250.9:c.594T>C (TYMS) ENSP00000314902.5:p.Ile198=
ENST00000323274.14:c.843T>C (TYMS) ENSP00000315644.10:p.Ile281=
ENST00000383578.7:c.*323A>G (ENOSF1) ENSP00000373072.3:n.*323A>G
ENST00000581920.1:n.421T>C (TYMS)
ENST00000584259.6:n.3766A>G (ENOSF1)
NM_001071.2:c.843T>C , LRG_783t1:c.843T>C (TYMS) NP_001062.1:p.Ile281=
NM_001126123.3:c.*323A>G (ENOSF1) NP_001119595.1:n.*323A>G
NM_017512.5:c.*1407A>G (ENOSF1) NP_059982.2:n.*1407A>G
NM_202758.3:c.*1407A>G (ENOSF1) NP_974487.1:n.*1407A>G
XR_243810.3:n.1691A>G (ENOSF1)
XR_243811.2:n.1716A>G (ENOSF1)
XR_430041.2:n.1811A>G (ENOSF1)
NM_001071.3:c.843T>C (TYMS) NP_001062.1:p.Ile281=
NM_001354867.1:c.741T>C (TYMS) NP_001341796.1:p.Ile247=
NM_001354868.1:c.594T>C (TYMS) NP_001341797.1:p.Ile198=
NR_148706.1:n.1616A>G (ENOSF1)
NR_148707.1:n.1732A>G (ENOSF1)
NR_148708.1:n.1980A>G (ENOSF1)
NR_148709.1:n.1666A>G (ENOSF1)
NR_148710.1:n.1692A>G (ENOSF1)
NR_148711.1:n.1543A>G (ENOSF1)
NR_148712.1:n.1876A>G (ENOSF1)
XM_024451242.1:c.462T>C (TYMS) XP_024307010.1:p.Ile154=
XR_002958180.1:n.1444A>G (ENOSF1)
XR_430041.4:n.1830A>G (ENOSF1)
NM_001071.4:c.843T>C (TYMS) MANE Select NP_001062.1:p.Ile281=
NM_017512.7:c.*1407A>G (ENOSF1) MANE Select NP_059982.2:n.*1407A>G
NM_001318760.2:c.*1407A>G (ENOSF1) NP_001305689.1:n.*1407A>G
NM_001354065.2:c.*1407A>G (ENOSF1) NP_001340994.1:n.*1407A>G
NM_001354066.2:c.*1407A>G (ENOSF1) NP_001340995.1:n.*1407A>G
NM_001354067.2:c.*1407A>G (ENOSF1) NP_001340996.1:n.*1407A>G
NM_001354068.2:c.*1407A>G (ENOSF1) NP_001340997.1:n.*1407A>G
NM_001354867.2:c.741T>C (TYMS) NP_001341796.1:p.Ile247=
NM_001354868.2:c.594T>C (TYMS) NP_001341797.1:p.Ile198=
NM_202758.5:c.*1407A>G (ENOSF1) NP_974487.2:n.*1407A>G
NR_148706.2:n.1582A>G (ENOSF1)
NR_148707.2:n.1698A>G (ENOSF1)
NR_148708.2:n.1946A>G (ENOSF1)
NR_148709.2:n.1632A>G (ENOSF1)
NR_148710.2:n.1658A>G (ENOSF1)
NR_148711.2:n.1509A>G (ENOSF1)
NR_148712.2:n.1842A>G (ENOSF1)