Canonical Allele Identifier: CA2640776597

Linked Data

gnomAD v4: 18-672380-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.672380T>A , CM000680.2:g.672380T>A GRCh38
NC_000018.9:g.672380T>A , CM000680.1:g.672380T>A GRCh37
NC_000018.8:g.662380T>A NCBI36
NG_028255.1:g.19777T>A , LRG_783:g.19777T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000323274.15:c.805-480T>A (TYMS) MANE Select ENSP00000315644.10:n.805-480T>A
ENST00000647584.2:c.*1925A>T (ENOSF1) MANE Select ENSP00000497230.2:n.*1925A>T
ENST00000323224.7:c.703-480T>A (TYMS) ENSP00000314727.7:n.703-480T>A
ENST00000323250.9:c.556-480T>A (TYMS) ENSP00000314902.5:n.556-480T>A
ENST00000323274.14:c.805-480T>A (TYMS) ENSP00000315644.10:n.805-480T>A
ENST00000383578.7:c.*841A>T (ENOSF1) ENSP00000373072.3:n.*841A>T
ENST00000581920.1:n.383-480T>A (TYMS)
ENST00000584259.6:n.4284A>T (ENOSF1)
NM_001071.2:c.805-480T>A , LRG_783t1:c.805-480T>A (TYMS) NP_001062.1:n.805-480T>A
NM_001126123.3:c.*841A>T (ENOSF1) NP_001119595.1:n.*841A>T
NM_017512.5:c.*1925A>T (ENOSF1) NP_059982.2:n.*1925A>T
NM_202758.3:c.*1925A>T (ENOSF1) NP_974487.1:n.*1925A>T
NM_001071.3:c.805-480T>A (TYMS) NP_001062.1:n.805-480T>A
NM_001354867.1:c.703-480T>A (TYMS) NP_001341796.1:n.703-480T>A
NM_001354868.1:c.556-480T>A (TYMS) NP_001341797.1:n.556-480T>A
NR_148706.1:n.2134A>T (ENOSF1)
NR_148707.1:n.2250A>T (ENOSF1)
NR_148708.1:n.2498A>T (ENOSF1)
NR_148709.1:n.2184A>T (ENOSF1)
NR_148710.1:n.2210A>T (ENOSF1)
NR_148711.1:n.2061A>T (ENOSF1)
NR_148712.1:n.2394A>T (ENOSF1)
XM_024451242.1:c.424-480T>A (TYMS) XP_024307010.1:n.424-480T>A
XR_002958180.1:n.1962A>T (ENOSF1)
XR_430041.4:n.2348A>T (ENOSF1)
NM_001071.4:c.805-480T>A (TYMS) MANE Select NP_001062.1:n.805-480T>A
NM_017512.7:c.*1925A>T (ENOSF1) MANE Select NP_059982.2:n.*1925A>T
NM_001318760.2:c.*1925A>T (ENOSF1) NP_001305689.1:n.*1925A>T
NM_001354065.2:c.*1925A>T (ENOSF1) NP_001340994.1:n.*1925A>T
NM_001354066.2:c.*1925A>T (ENOSF1) NP_001340995.1:n.*1925A>T
NM_001354067.2:c.*1925A>T (ENOSF1) NP_001340996.1:n.*1925A>T
NM_001354068.2:c.*1925A>T (ENOSF1) NP_001340997.1:n.*1925A>T
NM_001354867.2:c.703-480T>A (TYMS) NP_001341796.1:n.703-480T>A
NM_001354868.2:c.556-480T>A (TYMS) NP_001341797.1:n.556-480T>A
NM_202758.5:c.*1925A>T (ENOSF1) NP_974487.2:n.*1925A>T
NR_148706.2:n.2100A>T (ENOSF1)
NR_148707.2:n.2216A>T (ENOSF1)
NR_148708.2:n.2464A>T (ENOSF1)
NR_148709.2:n.2150A>T (ENOSF1)
NR_148710.2:n.2176A>T (ENOSF1)
NR_148711.2:n.2027A>T (ENOSF1)
NR_148712.2:n.2360A>T (ENOSF1)