Canonical Allele Identifier: CA401660037

Gene: TYMS ENOSF1

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.672866C>T , CM000680.2:g.672866C>T	GRCh38
NC_000018.9:g.672866C>T , CM000680.1:g.672866C>T	GRCh37
NC_000018.8:g.662866C>T	NCBI36
NG_028255.1:g.20263C>T , LRG_783:g.20263C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001071.4:c.811C>T (TYMS) MANE Select	NP_001062.1:p.Arg271Ter
NM_017512.7:c.*1439G>A (ENOSF1) MANE Select	NP_059982.2:n.*1439G>A
ENST00000323274.15:c.811C>T (TYMS) MANE Select	ENSP00000315644.10:p.Arg271Ter
ENST00000647584.2:c.*1439G>A (ENOSF1) MANE Select	ENSP00000497230.2:n.*1439G>A
NM_001071.2:c.811C>T , LRG_783t1:c.811C>T (TYMS)	NP_001062.1:p.Arg271Ter
NM_001071.3:c.811C>T (TYMS)	NP_001062.1:p.Arg271Ter
NM_001126123.3:c.*355G>A (ENOSF1)	NP_001119595.1:n.*355G>A
NM_001318760.2:c.*1439G>A (ENOSF1)	NP_001305689.1:n.*1439G>A
NM_001354065.2:c.*1439G>A (ENOSF1)	NP_001340994.1:n.*1439G>A
NM_001354066.2:c.*1439G>A (ENOSF1)	NP_001340995.1:n.*1439G>A
NM_001354067.2:c.*1439G>A (ENOSF1)	NP_001340996.1:n.*1439G>A
NM_001354068.2:c.*1439G>A (ENOSF1)	NP_001340997.1:n.*1439G>A
NM_001354867.1:c.709C>T (TYMS)	NP_001341796.1:p.Arg237Ter
NM_001354867.2:c.709C>T (TYMS)	NP_001341796.1:p.Arg237Ter
NM_001354868.1:c.562C>T (TYMS)	NP_001341797.1:p.Arg188Ter
NM_001354868.2:c.562C>T (TYMS)	NP_001341797.1:p.Arg188Ter
NM_017512.5:c.*1439G>A (ENOSF1)	NP_059982.2:n.*1439G>A
NM_202758.3:c.*1439G>A (ENOSF1)	NP_974487.1:n.*1439G>A
NM_202758.5:c.*1439G>A (ENOSF1)	NP_974487.2:n.*1439G>A
NR_148706.1:n.1648G>A (ENOSF1)
NR_148706.2:n.1614G>A (ENOSF1)
NR_148707.1:n.1764G>A (ENOSF1)
NR_148707.2:n.1730G>A (ENOSF1)
NR_148708.1:n.2012G>A (ENOSF1)
NR_148708.2:n.1978G>A (ENOSF1)
NR_148709.1:n.1698G>A (ENOSF1)
NR_148709.2:n.1664G>A (ENOSF1)
NR_148710.1:n.1724G>A (ENOSF1)
NR_148710.2:n.1690G>A (ENOSF1)
NR_148711.1:n.1575G>A (ENOSF1)
NR_148711.2:n.1541G>A (ENOSF1)
NR_148712.1:n.1908G>A (ENOSF1)
NR_148712.2:n.1874G>A (ENOSF1)
ENST00000323224.7:c.709C>T (TYMS)	ENSP00000314727.7:p.Arg237Ter
ENST00000323250.9:c.562C>T (TYMS)	ENSP00000314902.5:p.Arg188Ter
ENST00000323274.14:c.811C>T (TYMS)	ENSP00000315644.10:p.Arg271Ter
ENST00000383578.7:c.*355G>A (ENOSF1)	ENSP00000373072.3:n.*355G>A
ENST00000581920.1:n.389C>T (TYMS)
ENST00000584259.6:n.3798G>A (ENOSF1)
XM_024451242.1:c.430C>T (TYMS)	XP_024307010.1:p.Arg144Ter
XR_002958180.1:n.1476G>A (ENOSF1)
XR_243810.3:n.1723G>A (ENOSF1)
XR_243811.2:n.1748G>A (ENOSF1)
XR_430041.2:n.1843G>A (ENOSF1)
XR_430041.4:n.1862G>A (ENOSF1)