Canonical Allele Identifier: CA2640776604

Linked Data

gnomAD v4: 18-672386-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.672386G>T , CM000680.2:g.672386G>T GRCh38
NC_000018.9:g.672386G>T , CM000680.1:g.672386G>T GRCh37
NC_000018.8:g.662386G>T NCBI36
NG_028255.1:g.19783G>T , LRG_783:g.19783G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000323274.15:c.805-474G>T (TYMS) MANE Select ENSP00000315644.10:n.805-474G>T
ENST00000647584.2:c.*1919C>A (ENOSF1) MANE Select ENSP00000497230.2:n.*1919C>A
ENST00000323224.7:c.703-474G>T (TYMS) ENSP00000314727.7:n.703-474G>T
ENST00000323250.9:c.556-474G>T (TYMS) ENSP00000314902.5:n.556-474G>T
ENST00000323274.14:c.805-474G>T (TYMS) ENSP00000315644.10:n.805-474G>T
ENST00000383578.7:c.*835C>A (ENOSF1) ENSP00000373072.3:n.*835C>A
ENST00000581920.1:n.383-474G>T (TYMS)
ENST00000584259.6:n.4278C>A (ENOSF1)
NM_001071.2:c.805-474G>T , LRG_783t1:c.805-474G>T (TYMS) NP_001062.1:n.805-474G>T
NM_001126123.3:c.*835C>A (ENOSF1) NP_001119595.1:n.*835C>A
NM_017512.5:c.*1919C>A (ENOSF1) NP_059982.2:n.*1919C>A
NM_202758.3:c.*1919C>A (ENOSF1) NP_974487.1:n.*1919C>A
NM_001071.3:c.805-474G>T (TYMS) NP_001062.1:n.805-474G>T
NM_001354867.1:c.703-474G>T (TYMS) NP_001341796.1:n.703-474G>T
NM_001354868.1:c.556-474G>T (TYMS) NP_001341797.1:n.556-474G>T
NR_148706.1:n.2128C>A (ENOSF1)
NR_148707.1:n.2244C>A (ENOSF1)
NR_148708.1:n.2492C>A (ENOSF1)
NR_148709.1:n.2178C>A (ENOSF1)
NR_148710.1:n.2204C>A (ENOSF1)
NR_148711.1:n.2055C>A (ENOSF1)
NR_148712.1:n.2388C>A (ENOSF1)
XM_024451242.1:c.424-474G>T (TYMS) XP_024307010.1:n.424-474G>T
XR_002958180.1:n.1956C>A (ENOSF1)
XR_430041.4:n.2342C>A (ENOSF1)
NM_001071.4:c.805-474G>T (TYMS) MANE Select NP_001062.1:n.805-474G>T
NM_017512.7:c.*1919C>A (ENOSF1) MANE Select NP_059982.2:n.*1919C>A
NM_001318760.2:c.*1919C>A (ENOSF1) NP_001305689.1:n.*1919C>A
NM_001354065.2:c.*1919C>A (ENOSF1) NP_001340994.1:n.*1919C>A
NM_001354066.2:c.*1919C>A (ENOSF1) NP_001340995.1:n.*1919C>A
NM_001354067.2:c.*1919C>A (ENOSF1) NP_001340996.1:n.*1919C>A
NM_001354068.2:c.*1919C>A (ENOSF1) NP_001340997.1:n.*1919C>A
NM_001354867.2:c.703-474G>T (TYMS) NP_001341796.1:n.703-474G>T
NM_001354868.2:c.556-474G>T (TYMS) NP_001341797.1:n.556-474G>T
NM_202758.5:c.*1919C>A (ENOSF1) NP_974487.2:n.*1919C>A
NR_148706.2:n.2094C>A (ENOSF1)
NR_148707.2:n.2210C>A (ENOSF1)
NR_148708.2:n.2458C>A (ENOSF1)
NR_148709.2:n.2144C>A (ENOSF1)
NR_148710.2:n.2170C>A (ENOSF1)
NR_148711.2:n.2021C>A (ENOSF1)
NR_148712.2:n.2354C>A (ENOSF1)