Canonical Allele Identifier: CA295394152

Gene: TYMS ENOSF1

Linked Data

• dbSNP Id: rs923924359
• gnomAD v3: 18-673096-G-C
• gnomAD v4: 18-673096-G-C
• MyVariant Identifiers: chr18:g.673096G>C (hg19) ; chr18:g.673096G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.673096G>C , CM000680.2:g.673096G>C	GRCh38
NC_000018.9:g.673096G>C , CM000680.1:g.673096G>C	GRCh37
NC_000018.8:g.663096G>C	NCBI36
NG_028255.1:g.20493G>C , LRG_783:g.20493G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323274.15:c.*99G>C (TYMS) MANE Select	ENSP00000315644.10:n.*99G>C
ENST00000647584.2:c.*1209C>G (ENOSF1) MANE Select	ENSP00000497230.2:n.*1209C>G
ENST00000323224.7:c.939G>C (TYMS)	ENSP00000314727.7:n.939G>C
ENST00000323274.14:c.*99G>C (TYMS)	ENSP00000315644.10:n.*99G>C
ENST00000383578.7:c.*145-20C>G (ENOSF1)	ENSP00000373072.3:n.*145-20C>G
ENST00000581920.1:n.619G>C (TYMS)
ENST00000584259.6:n.3588-20C>G (ENOSF1)
NM_001071.2:c.*99G>C , LRG_783t1:c.*99G>C (TYMS)	NP_001062.1:n.*99G>C
NM_001126123.3:c.*145-20C>G (ENOSF1)	NP_001119595.1:n.*145-20C>G
NM_017512.5:c.*1209C>G (ENOSF1)	NP_059982.2:n.*1209C>G
NM_202758.3:c.*1209C>G (ENOSF1)	NP_974487.1:n.*1209C>G
XR_243810.3:n.1513-20C>G (ENOSF1)
XR_243811.2:n.1538-20C>G (ENOSF1)
XR_430041.2:n.1633-20C>G (ENOSF1)
NM_001071.3:c.*99G>C (TYMS)	NP_001062.1:n.*99G>C
NM_001354867.1:c.*99G>C (TYMS)	NP_001341796.1:n.*99G>C
NM_001354868.1:c.*99G>C (TYMS)	NP_001341797.1:n.*99G>C
NR_148706.1:n.1438-20C>G (ENOSF1)
NR_148707.1:n.1554-20C>G (ENOSF1)
NR_148708.1:n.1802-20C>G (ENOSF1)
NR_148709.1:n.1488-20C>G (ENOSF1)
NR_148710.1:n.1514-20C>G (ENOSF1)
NR_148711.1:n.1365-20C>G (ENOSF1)
NR_148712.1:n.1698-20C>G (ENOSF1)
XM_024451242.1:c.*99G>C (TYMS)	XP_024307010.1:n.*99G>C
XR_002958180.1:n.1266-20C>G (ENOSF1)
XR_430041.4:n.1652-20C>G (ENOSF1)
NM_001071.4:c.*99G>C (TYMS) MANE Select	NP_001062.1:n.*99G>C
NM_017512.7:c.*1209C>G (ENOSF1) MANE Select	NP_059982.2:n.*1209C>G
NM_001318760.2:c.*1209C>G (ENOSF1)	NP_001305689.1:n.*1209C>G
NM_001354065.2:c.*1209C>G (ENOSF1)	NP_001340994.1:n.*1209C>G
NM_001354066.2:c.*1209C>G (ENOSF1)	NP_001340995.1:n.*1209C>G
NM_001354067.2:c.*1209C>G (ENOSF1)	NP_001340996.1:n.*1209C>G
NM_001354068.2:c.*1209C>G (ENOSF1)	NP_001340997.1:n.*1209C>G
NM_001354867.2:c.*99G>C (TYMS)	NP_001341796.1:n.*99G>C
NM_001354868.2:c.*99G>C (TYMS)	NP_001341797.1:n.*99G>C
NM_202758.5:c.*1209C>G (ENOSF1)	NP_974487.2:n.*1209C>G
NR_148706.2:n.1404-20C>G (ENOSF1)
NR_148707.2:n.1520-20C>G (ENOSF1)
NR_148708.2:n.1768-20C>G (ENOSF1)
NR_148709.2:n.1454-20C>G (ENOSF1)
NR_148710.2:n.1480-20C>G (ENOSF1)
NR_148711.2:n.1331-20C>G (ENOSF1)
NR_148712.2:n.1664-20C>G (ENOSF1)