Canonical Allele Identifier: CA987091863

Gene: TYMS ENOSF1

Linked Data

• dbSNP Id: rs2075142038
• gnomAD v3: 18-673112-G-A
• gnomAD v4: 18-673112-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.673112G>A , CM000680.2:g.673112G>A	GRCh38
NC_000018.9:g.673112G>A , CM000680.1:g.673112G>A	GRCh37
NC_000018.8:g.663112G>A	NCBI36
NG_028255.1:g.20509G>A , LRG_783:g.20509G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323274.15:c.*115G>A (TYMS) MANE Select	ENSP00000315644.10:n.*115G>A
ENST00000647584.2:c.*1193C>T (ENOSF1) MANE Select	ENSP00000497230.2:n.*1193C>T
ENST00000323224.7:c.955G>A (TYMS)	ENSP00000314727.7:n.955G>A
ENST00000323274.14:c.*115G>A (TYMS)	ENSP00000315644.10:n.*115G>A
ENST00000383578.7:c.*145-36C>T (ENOSF1)	ENSP00000373072.3:n.*145-36C>T
ENST00000581920.1:n.635G>A (TYMS)
ENST00000584259.6:n.3588-36C>T (ENOSF1)
NM_001071.2:c.*115G>A , LRG_783t1:c.*115G>A (TYMS)	NP_001062.1:n.*115G>A
NM_001126123.3:c.*145-36C>T (ENOSF1)	NP_001119595.1:n.*145-36C>T
NM_017512.5:c.*1193C>T (ENOSF1)	NP_059982.2:n.*1193C>T
NM_202758.3:c.*1193C>T (ENOSF1)	NP_974487.1:n.*1193C>T
XR_243810.3:n.1513-36C>T (ENOSF1)
XR_243811.2:n.1538-36C>T (ENOSF1)
XR_430041.2:n.1633-36C>T (ENOSF1)
NM_001071.3:c.*115G>A (TYMS)	NP_001062.1:n.*115G>A
NM_001354867.1:c.*115G>A (TYMS)	NP_001341796.1:n.*115G>A
NM_001354868.1:c.*115G>A (TYMS)	NP_001341797.1:n.*115G>A
NR_148706.1:n.1438-36C>T (ENOSF1)
NR_148707.1:n.1554-36C>T (ENOSF1)
NR_148708.1:n.1802-36C>T (ENOSF1)
NR_148709.1:n.1488-36C>T (ENOSF1)
NR_148710.1:n.1514-36C>T (ENOSF1)
NR_148711.1:n.1365-36C>T (ENOSF1)
NR_148712.1:n.1698-36C>T (ENOSF1)
XM_024451242.1:c.*115G>A (TYMS)	XP_024307010.1:n.*115G>A
XR_002958180.1:n.1266-36C>T (ENOSF1)
XR_430041.4:n.1652-36C>T (ENOSF1)
NM_001071.4:c.*115G>A (TYMS) MANE Select	NP_001062.1:n.*115G>A
NM_017512.7:c.*1193C>T (ENOSF1) MANE Select	NP_059982.2:n.*1193C>T
NM_001318760.2:c.*1193C>T (ENOSF1)	NP_001305689.1:n.*1193C>T
NM_001354065.2:c.*1193C>T (ENOSF1)	NP_001340994.1:n.*1193C>T
NM_001354066.2:c.*1193C>T (ENOSF1)	NP_001340995.1:n.*1193C>T
NM_001354067.2:c.*1193C>T (ENOSF1)	NP_001340996.1:n.*1193C>T
NM_001354068.2:c.*1193C>T (ENOSF1)	NP_001340997.1:n.*1193C>T
NM_001354867.2:c.*115G>A (TYMS)	NP_001341796.1:n.*115G>A
NM_001354868.2:c.*115G>A (TYMS)	NP_001341797.1:n.*115G>A
NM_202758.5:c.*1193C>T (ENOSF1)	NP_974487.2:n.*1193C>T
NR_148706.2:n.1404-36C>T (ENOSF1)
NR_148707.2:n.1520-36C>T (ENOSF1)
NR_148708.2:n.1768-36C>T (ENOSF1)
NR_148709.2:n.1454-36C>T (ENOSF1)
NR_148710.2:n.1480-36C>T (ENOSF1)
NR_148711.2:n.1331-36C>T (ENOSF1)
NR_148712.2:n.1664-36C>T (ENOSF1)