Canonical Allele Identifier: CA401660022

Gene: TYMS ENOSF1

Linked Data

• gnomAD v4: 18-672863-C-A
• MyVariant Identifiers: chr18:g.672863C>A (hg19) ; chr18:g.672863C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.672863C>A , CM000680.2:g.672863C>A	GRCh38
NC_000018.9:g.672863C>A , CM000680.1:g.672863C>A	GRCh37
NC_000018.8:g.662863C>A	NCBI36
NG_028255.1:g.20260C>A , LRG_783:g.20260C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323274.15:c.808C>A (TYMS) MANE Select	ENSP00000315644.10:p.Gln270Lys
ENST00000647584.2:c.*1442G>T (ENOSF1) MANE Select	ENSP00000497230.2:n.*1442G>T
ENST00000323224.7:c.706C>A (TYMS)	ENSP00000314727.7:p.Gln236Lys
ENST00000323250.9:c.559C>A (TYMS)	ENSP00000314902.5:p.Gln187Lys
ENST00000323274.14:c.808C>A (TYMS)	ENSP00000315644.10:p.Gln270Lys
ENST00000383578.7:c.*358G>T (ENOSF1)	ENSP00000373072.3:n.*358G>T
ENST00000581920.1:n.386C>A (TYMS)
ENST00000584259.6:n.3801G>T (ENOSF1)
NM_001071.2:c.808C>A , LRG_783t1:c.808C>A (TYMS)	NP_001062.1:p.Gln270Lys
NM_001126123.3:c.*358G>T (ENOSF1)	NP_001119595.1:n.*358G>T
NM_017512.5:c.*1442G>T (ENOSF1)	NP_059982.2:n.*1442G>T
NM_202758.3:c.*1442G>T (ENOSF1)	NP_974487.1:n.*1442G>T
XR_243810.3:n.1726G>T (ENOSF1)
XR_243811.2:n.1751G>T (ENOSF1)
XR_430041.2:n.1846G>T (ENOSF1)
NM_001071.3:c.808C>A (TYMS)	NP_001062.1:p.Gln270Lys
NM_001354867.1:c.706C>A (TYMS)	NP_001341796.1:p.Gln236Lys
NM_001354868.1:c.559C>A (TYMS)	NP_001341797.1:p.Gln187Lys
NR_148706.1:n.1651G>T (ENOSF1)
NR_148707.1:n.1767G>T (ENOSF1)
NR_148708.1:n.2015G>T (ENOSF1)
NR_148709.1:n.1701G>T (ENOSF1)
NR_148710.1:n.1727G>T (ENOSF1)
NR_148711.1:n.1578G>T (ENOSF1)
NR_148712.1:n.1911G>T (ENOSF1)
XM_024451242.1:c.427C>A (TYMS)	XP_024307010.1:p.Gln143Lys
XR_002958180.1:n.1479G>T (ENOSF1)
XR_430041.4:n.1865G>T (ENOSF1)
NM_001071.4:c.808C>A (TYMS) MANE Select	NP_001062.1:p.Gln270Lys
NM_017512.7:c.*1442G>T (ENOSF1) MANE Select	NP_059982.2:n.*1442G>T
NM_001318760.2:c.*1442G>T (ENOSF1)	NP_001305689.1:n.*1442G>T
NM_001354065.2:c.*1442G>T (ENOSF1)	NP_001340994.1:n.*1442G>T
NM_001354066.2:c.*1442G>T (ENOSF1)	NP_001340995.1:n.*1442G>T
NM_001354067.2:c.*1442G>T (ENOSF1)	NP_001340996.1:n.*1442G>T
NM_001354068.2:c.*1442G>T (ENOSF1)	NP_001340997.1:n.*1442G>T
NM_001354867.2:c.706C>A (TYMS)	NP_001341796.1:p.Gln236Lys
NM_001354868.2:c.559C>A (TYMS)	NP_001341797.1:p.Gln187Lys
NM_202758.5:c.*1442G>T (ENOSF1)	NP_974487.2:n.*1442G>T
NR_148706.2:n.1617G>T (ENOSF1)
NR_148707.2:n.1733G>T (ENOSF1)
NR_148708.2:n.1981G>T (ENOSF1)
NR_148709.2:n.1667G>T (ENOSF1)
NR_148710.2:n.1693G>T (ENOSF1)
NR_148711.2:n.1544G>T (ENOSF1)
NR_148712.2:n.1877G>T (ENOSF1)