Canonical Allele Identifier: CA378147551
Gene: CHUK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100194001G>T , CM000672.2:g.100194001G>T GRCh38
NC_000010.10:g.101953758G>T , CM000672.1:g.101953758G>T GRCh37
NC_000010.9:g.101943748G>T NCBI36
NG_028023.1:g.40587C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370397.8:c.1957C>A MANE Select ENSP00000359424.6:p.Leu653Ile
ENST00000370397.7:c.1957C>A ENSP00000359424.6:p.Leu653Ile
ENST00000588656.1:n.79C>A
ENST00000590930.5:n.1942C>A
NM_001278.3:c.1957C>A NP_001269.3:p.Leu653Ile
XM_011539196.1:c.1957C>A XP_011537498.1:p.Leu653Ile
XM_011539197.1:c.1957C>A XP_011537499.1:p.Leu653Ile
XM_011539198.1:c.1957C>A XP_011537500.1:p.Leu653Ile
XR_945589.1:n.2035C>A
NM_001278.4:c.1957C>A NP_001269.3:p.Leu653Ile
NM_001320928.1:c.1957C>A NP_001307857.1:p.Leu653Ile
XM_017015611.1:c.1957C>A XP_016871100.1:p.Leu653Ile
XM_017015613.1:c.745C>A XP_016871102.1:p.Leu249Ile
XR_001747010.1:n.2035C>A
XR_001747011.1:n.1932C>A
NM_001278.5:c.1957C>A MANE Select NP_001269.3:p.Leu653Ile
NM_001320928.2:c.1957C>A NP_001307857.1:p.Leu653Ile