Canonical Allele Identifier: CA378147591
Gene: CHUK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100194005C>G , CM000672.2:g.100194005C>G GRCh38
NC_000010.10:g.101953762C>G , CM000672.1:g.101953762C>G GRCh37
NC_000010.9:g.101943752C>G NCBI36
NG_028023.1:g.40583G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370397.8:c.1953G>C MANE Select ENSP00000359424.6:p.Trp651Cys
ENST00000370397.7:c.1953G>C ENSP00000359424.6:p.Trp651Cys
ENST00000588656.1:n.75G>C
ENST00000590930.5:n.1938G>C
NM_001278.3:c.1953G>C NP_001269.3:p.Trp651Cys
XM_011539196.1:c.1953G>C XP_011537498.1:p.Trp651Cys
XM_011539197.1:c.1953G>C XP_011537499.1:p.Trp651Cys
XM_011539198.1:c.1953G>C XP_011537500.1:p.Trp651Cys
XR_945589.1:n.2031G>C
NM_001278.4:c.1953G>C NP_001269.3:p.Trp651Cys
NM_001320928.1:c.1953G>C NP_001307857.1:p.Trp651Cys
XM_017015611.1:c.1953G>C XP_016871100.1:p.Trp651Cys
XM_017015613.1:c.741G>C XP_016871102.1:p.Trp247Cys
XR_001747010.1:n.2031G>C
XR_001747011.1:n.1928G>C
NM_001278.5:c.1953G>C MANE Select NP_001269.3:p.Trp651Cys
NM_001320928.2:c.1953G>C NP_001307857.1:p.Trp651Cys