Canonical Allele Identifier: CA295394157

Gene: TYMS ENOSF1

Linked Data

• dbSNP Id: rs913081003
• gnomAD v4: 18-673111-C-T
• MyVariant Identifiers: chr18:g.673111C>T (hg19) ; chr18:g.673111C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.673111C>T , CM000680.2:g.673111C>T	GRCh38
NC_000018.9:g.673111C>T , CM000680.1:g.673111C>T	GRCh37
NC_000018.8:g.663111C>T	NCBI36
NG_028255.1:g.20508C>T , LRG_783:g.20508C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323274.15:c.*114C>T (TYMS) MANE Select	ENSP00000315644.10:n.*114C>T
ENST00000647584.2:c.*1194G>A (ENOSF1) MANE Select	ENSP00000497230.2:n.*1194G>A
ENST00000323224.7:c.954C>T (TYMS)	ENSP00000314727.7:n.954C>T
ENST00000323274.14:c.*114C>T (TYMS)	ENSP00000315644.10:n.*114C>T
ENST00000383578.7:c.*145-35G>A (ENOSF1)	ENSP00000373072.3:n.*145-35G>A
ENST00000581920.1:n.634C>T (TYMS)
ENST00000584259.6:n.3588-35G>A (ENOSF1)
NM_001071.2:c.*114C>T , LRG_783t1:c.*114C>T (TYMS)	NP_001062.1:n.*114C>T
NM_001126123.3:c.*145-35G>A (ENOSF1)	NP_001119595.1:n.*145-35G>A
NM_017512.5:c.*1194G>A (ENOSF1)	NP_059982.2:n.*1194G>A
NM_202758.3:c.*1194G>A (ENOSF1)	NP_974487.1:n.*1194G>A
XR_243810.3:n.1513-35G>A (ENOSF1)
XR_243811.2:n.1538-35G>A (ENOSF1)
XR_430041.2:n.1633-35G>A (ENOSF1)
NM_001071.3:c.*114C>T (TYMS)	NP_001062.1:n.*114C>T
NM_001354867.1:c.*114C>T (TYMS)	NP_001341796.1:n.*114C>T
NM_001354868.1:c.*114C>T (TYMS)	NP_001341797.1:n.*114C>T
NR_148706.1:n.1438-35G>A (ENOSF1)
NR_148707.1:n.1554-35G>A (ENOSF1)
NR_148708.1:n.1802-35G>A (ENOSF1)
NR_148709.1:n.1488-35G>A (ENOSF1)
NR_148710.1:n.1514-35G>A (ENOSF1)
NR_148711.1:n.1365-35G>A (ENOSF1)
NR_148712.1:n.1698-35G>A (ENOSF1)
XM_024451242.1:c.*114C>T (TYMS)	XP_024307010.1:n.*114C>T
XR_002958180.1:n.1266-35G>A (ENOSF1)
XR_430041.4:n.1652-35G>A (ENOSF1)
NM_001071.4:c.*114C>T (TYMS) MANE Select	NP_001062.1:n.*114C>T
NM_017512.7:c.*1194G>A (ENOSF1) MANE Select	NP_059982.2:n.*1194G>A
NM_001318760.2:c.*1194G>A (ENOSF1)	NP_001305689.1:n.*1194G>A
NM_001354065.2:c.*1194G>A (ENOSF1)	NP_001340994.1:n.*1194G>A
NM_001354066.2:c.*1194G>A (ENOSF1)	NP_001340995.1:n.*1194G>A
NM_001354067.2:c.*1194G>A (ENOSF1)	NP_001340996.1:n.*1194G>A
NM_001354068.2:c.*1194G>A (ENOSF1)	NP_001340997.1:n.*1194G>A
NM_001354867.2:c.*114C>T (TYMS)	NP_001341796.1:n.*114C>T
NM_001354868.2:c.*114C>T (TYMS)	NP_001341797.1:n.*114C>T
NM_202758.5:c.*1194G>A (ENOSF1)	NP_974487.2:n.*1194G>A
NR_148706.2:n.1404-35G>A (ENOSF1)
NR_148707.2:n.1520-35G>A (ENOSF1)
NR_148708.2:n.1768-35G>A (ENOSF1)
NR_148709.2:n.1454-35G>A (ENOSF1)
NR_148710.2:n.1480-35G>A (ENOSF1)
NR_148711.2:n.1331-35G>A (ENOSF1)
NR_148712.2:n.1664-35G>A (ENOSF1)