Canonical Allele Identifier: CA2640776977

Gene: TYMS ENOSF1

Linked Data

• gnomAD v4: 18-672796-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.672796C>T , CM000680.2:g.672796C>T	GRCh38
NC_000018.9:g.672796C>T , CM000680.1:g.672796C>T	GRCh37
NC_000018.8:g.662796C>T	NCBI36
NG_028255.1:g.20193C>T , LRG_783:g.20193C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000323274.15:c.805-64C>T (TYMS) MANE Select	ENSP00000315644.10:n.805-64C>T
ENST00000647584.2:c.*1509G>A (ENOSF1) MANE Select	ENSP00000497230.2:n.*1509G>A
ENST00000323224.7:c.703-64C>T (TYMS)	ENSP00000314727.7:n.703-64C>T
ENST00000323250.9:c.556-64C>T (TYMS)	ENSP00000314902.5:n.556-64C>T
ENST00000323274.14:c.805-64C>T (TYMS)	ENSP00000315644.10:n.805-64C>T
ENST00000383578.7:c.*425G>A (ENOSF1)	ENSP00000373072.3:n.*425G>A
ENST00000581920.1:n.383-64C>T (TYMS)
ENST00000584259.6:n.3868G>A (ENOSF1)
NM_001071.2:c.805-64C>T , LRG_783t1:c.805-64C>T (TYMS)	NP_001062.1:n.805-64C>T
NM_001126123.3:c.*425G>A (ENOSF1)	NP_001119595.1:n.*425G>A
NM_017512.5:c.*1509G>A (ENOSF1)	NP_059982.2:n.*1509G>A
NM_202758.3:c.*1509G>A (ENOSF1)	NP_974487.1:n.*1509G>A
XR_243810.3:n.1793G>A (ENOSF1)
XR_243811.2:n.1818G>A (ENOSF1)
XR_430041.2:n.1913G>A (ENOSF1)
NM_001071.3:c.805-64C>T (TYMS)	NP_001062.1:n.805-64C>T
NM_001354867.1:c.703-64C>T (TYMS)	NP_001341796.1:n.703-64C>T
NM_001354868.1:c.556-64C>T (TYMS)	NP_001341797.1:n.556-64C>T
NR_148706.1:n.1718G>A (ENOSF1)
NR_148707.1:n.1834G>A (ENOSF1)
NR_148708.1:n.2082G>A (ENOSF1)
NR_148709.1:n.1768G>A (ENOSF1)
NR_148710.1:n.1794G>A (ENOSF1)
NR_148711.1:n.1645G>A (ENOSF1)
NR_148712.1:n.1978G>A (ENOSF1)
XM_024451242.1:c.424-64C>T (TYMS)	XP_024307010.1:n.424-64C>T
XR_002958180.1:n.1546G>A (ENOSF1)
XR_430041.4:n.1932G>A (ENOSF1)
NM_001071.4:c.805-64C>T (TYMS) MANE Select	NP_001062.1:n.805-64C>T
NM_017512.7:c.*1509G>A (ENOSF1) MANE Select	NP_059982.2:n.*1509G>A
NM_001318760.2:c.*1509G>A (ENOSF1)	NP_001305689.1:n.*1509G>A
NM_001354065.2:c.*1509G>A (ENOSF1)	NP_001340994.1:n.*1509G>A
NM_001354066.2:c.*1509G>A (ENOSF1)	NP_001340995.1:n.*1509G>A
NM_001354067.2:c.*1509G>A (ENOSF1)	NP_001340996.1:n.*1509G>A
NM_001354068.2:c.*1509G>A (ENOSF1)	NP_001340997.1:n.*1509G>A
NM_001354867.2:c.703-64C>T (TYMS)	NP_001341796.1:n.703-64C>T
NM_001354868.2:c.556-64C>T (TYMS)	NP_001341797.1:n.556-64C>T
NM_202758.5:c.*1509G>A (ENOSF1)	NP_974487.2:n.*1509G>A
NR_148706.2:n.1684G>A (ENOSF1)
NR_148707.2:n.1800G>A (ENOSF1)
NR_148708.2:n.2048G>A (ENOSF1)
NR_148709.2:n.1734G>A (ENOSF1)
NR_148710.2:n.1760G>A (ENOSF1)
NR_148711.2:n.1611G>A (ENOSF1)
NR_148712.2:n.1944G>A (ENOSF1)