Canonical Allele Identifier: CA627884162

Gene: TYMS ENOSF1

Linked Data

• dbSNP Id: rs565099702
• gnomAD v2: 18-672801-G-C
• gnomAD v3: 18-672801-G-C
• gnomAD v4: 18-672801-G-C
• MyVariant Identifiers: chr18:g.672801G>C (hg19) ; chr18:g.672801G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.672801G>C , CM000680.2:g.672801G>C	GRCh38
NC_000018.9:g.672801G>C , CM000680.1:g.672801G>C	GRCh37
NC_000018.8:g.662801G>C	NCBI36
NG_028255.1:g.20198G>C , LRG_783:g.20198G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000323274.15:c.805-59G>C (TYMS) MANE Select	ENSP00000315644.10:n.805-59G>C
ENST00000647584.2:c.*1504C>G (ENOSF1) MANE Select	ENSP00000497230.2:n.*1504C>G
ENST00000323224.7:c.703-59G>C (TYMS)	ENSP00000314727.7:n.703-59G>C
ENST00000323250.9:c.556-59G>C (TYMS)	ENSP00000314902.5:n.556-59G>C
ENST00000323274.14:c.805-59G>C (TYMS)	ENSP00000315644.10:n.805-59G>C
ENST00000383578.7:c.*420C>G (ENOSF1)	ENSP00000373072.3:n.*420C>G
ENST00000581920.1:n.383-59G>C (TYMS)
ENST00000584259.6:n.3863C>G (ENOSF1)
NM_001071.2:c.805-59G>C , LRG_783t1:c.805-59G>C (TYMS)	NP_001062.1:n.805-59G>C
NM_001126123.3:c.*420C>G (ENOSF1)	NP_001119595.1:n.*420C>G
NM_017512.5:c.*1504C>G (ENOSF1)	NP_059982.2:n.*1504C>G
NM_202758.3:c.*1504C>G (ENOSF1)	NP_974487.1:n.*1504C>G
XR_243810.3:n.1788C>G (ENOSF1)
XR_243811.2:n.1813C>G (ENOSF1)
XR_430041.2:n.1908C>G (ENOSF1)
NM_001071.3:c.805-59G>C (TYMS)	NP_001062.1:n.805-59G>C
NM_001354867.1:c.703-59G>C (TYMS)	NP_001341796.1:n.703-59G>C
NM_001354868.1:c.556-59G>C (TYMS)	NP_001341797.1:n.556-59G>C
NR_148706.1:n.1713C>G (ENOSF1)
NR_148707.1:n.1829C>G (ENOSF1)
NR_148708.1:n.2077C>G (ENOSF1)
NR_148709.1:n.1763C>G (ENOSF1)
NR_148710.1:n.1789C>G (ENOSF1)
NR_148711.1:n.1640C>G (ENOSF1)
NR_148712.1:n.1973C>G (ENOSF1)
XM_024451242.1:c.424-59G>C (TYMS)	XP_024307010.1:n.424-59G>C
XR_002958180.1:n.1541C>G (ENOSF1)
XR_430041.4:n.1927C>G (ENOSF1)
NM_001071.4:c.805-59G>C (TYMS) MANE Select	NP_001062.1:n.805-59G>C
NM_017512.7:c.*1504C>G (ENOSF1) MANE Select	NP_059982.2:n.*1504C>G
NM_001318760.2:c.*1504C>G (ENOSF1)	NP_001305689.1:n.*1504C>G
NM_001354065.2:c.*1504C>G (ENOSF1)	NP_001340994.1:n.*1504C>G
NM_001354066.2:c.*1504C>G (ENOSF1)	NP_001340995.1:n.*1504C>G
NM_001354067.2:c.*1504C>G (ENOSF1)	NP_001340996.1:n.*1504C>G
NM_001354068.2:c.*1504C>G (ENOSF1)	NP_001340997.1:n.*1504C>G
NM_001354867.2:c.703-59G>C (TYMS)	NP_001341796.1:n.703-59G>C
NM_001354868.2:c.556-59G>C (TYMS)	NP_001341797.1:n.556-59G>C
NM_202758.5:c.*1504C>G (ENOSF1)	NP_974487.2:n.*1504C>G
NR_148706.2:n.1679C>G (ENOSF1)
NR_148707.2:n.1795C>G (ENOSF1)
NR_148708.2:n.2043C>G (ENOSF1)
NR_148709.2:n.1729C>G (ENOSF1)
NR_148710.2:n.1755C>G (ENOSF1)
NR_148711.2:n.1606C>G (ENOSF1)
NR_148712.2:n.1939C>G (ENOSF1)