Canonical Allele Identifier: CA2576440882

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.672853T>C , CM000680.2:g.672853T>C GRCh38
NC_000018.9:g.672853T>C , CM000680.1:g.672853T>C GRCh37
NC_000018.8:g.662853T>C NCBI36
NG_028255.1:g.20250T>C , LRG_783:g.20250T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.805-7T>C (TYMS) MANE Select ENSP00000315644.10:n.805-7T>C
ENST00000647584.2:c.*1452A>G (ENOSF1) MANE Select ENSP00000497230.2:n.*1452A>G
ENST00000323224.7:c.703-7T>C (TYMS) ENSP00000314727.7:n.703-7T>C
ENST00000323250.9:c.556-7T>C (TYMS) ENSP00000314902.5:n.556-7T>C
ENST00000323274.14:c.805-7T>C (TYMS) ENSP00000315644.10:n.805-7T>C
ENST00000383578.7:c.*368A>G (ENOSF1) ENSP00000373072.3:n.*368A>G
ENST00000581920.1:n.383-7T>C (TYMS)
ENST00000584259.6:n.3811A>G (ENOSF1)
NM_001071.2:c.805-7T>C , LRG_783t1:c.805-7T>C (TYMS) NP_001062.1:n.805-7T>C
NM_001126123.3:c.*368A>G (ENOSF1) NP_001119595.1:n.*368A>G
NM_017512.5:c.*1452A>G (ENOSF1) NP_059982.2:n.*1452A>G
NM_202758.3:c.*1452A>G (ENOSF1) NP_974487.1:n.*1452A>G
XR_243810.3:n.1736A>G (ENOSF1)
XR_243811.2:n.1761A>G (ENOSF1)
XR_430041.2:n.1856A>G (ENOSF1)
NM_001071.3:c.805-7T>C (TYMS) NP_001062.1:n.805-7T>C
NM_001354867.1:c.703-7T>C (TYMS) NP_001341796.1:n.703-7T>C
NM_001354868.1:c.556-7T>C (TYMS) NP_001341797.1:n.556-7T>C
NR_148706.1:n.1661A>G (ENOSF1)
NR_148707.1:n.1777A>G (ENOSF1)
NR_148708.1:n.2025A>G (ENOSF1)
NR_148709.1:n.1711A>G (ENOSF1)
NR_148710.1:n.1737A>G (ENOSF1)
NR_148711.1:n.1588A>G (ENOSF1)
NR_148712.1:n.1921A>G (ENOSF1)
XM_024451242.1:c.424-7T>C (TYMS) XP_024307010.1:n.424-7T>C
XR_002958180.1:n.1489A>G (ENOSF1)
XR_430041.4:n.1875A>G (ENOSF1)
NM_001071.4:c.805-7T>C (TYMS) MANE Select NP_001062.1:n.805-7T>C
NM_017512.7:c.*1452A>G (ENOSF1) MANE Select NP_059982.2:n.*1452A>G
NM_001318760.2:c.*1452A>G (ENOSF1) NP_001305689.1:n.*1452A>G
NM_001354065.2:c.*1452A>G (ENOSF1) NP_001340994.1:n.*1452A>G
NM_001354066.2:c.*1452A>G (ENOSF1) NP_001340995.1:n.*1452A>G
NM_001354067.2:c.*1452A>G (ENOSF1) NP_001340996.1:n.*1452A>G
NM_001354068.2:c.*1452A>G (ENOSF1) NP_001340997.1:n.*1452A>G
NM_001354867.2:c.703-7T>C (TYMS) NP_001341796.1:n.703-7T>C
NM_001354868.2:c.556-7T>C (TYMS) NP_001341797.1:n.556-7T>C
NM_202758.5:c.*1452A>G (ENOSF1) NP_974487.2:n.*1452A>G
NR_148706.2:n.1627A>G (ENOSF1)
NR_148707.2:n.1743A>G (ENOSF1)
NR_148708.2:n.1991A>G (ENOSF1)
NR_148709.2:n.1677A>G (ENOSF1)
NR_148710.2:n.1703A>G (ENOSF1)
NR_148711.2:n.1554A>G (ENOSF1)
NR_148712.2:n.1887A>G (ENOSF1)