Canonical Allele Identifier: CA5646501
Community Standard Title: NM_001278.5(CHUK):c.1231+10G>T
Gene: CHUK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.100207220C>A , CM000672.2:g.100207220C>A GRCh38
NC_000010.10:g.101966977C>A , CM000672.1:g.101966977C>A GRCh37
NC_000010.9:g.101956967C>A NCBI36
NG_028023.1:g.27368G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001278.5:c.1231+10G>T MANE Select NP_001269.3:n.1231+10G>T
ENST00000370397.8:c.1231+10G>T MANE Select ENSP00000359424.6:n.1231+10G>T
NM_001278.3:c.1231+10G>T NP_001269.3:n.1231+10G>T
NM_001278.4:c.1231+10G>T NP_001269.3:n.1231+10G>T
NM_001320928.1:c.1231+10G>T NP_001307857.1:n.1231+10G>T
NM_001320928.2:c.1231+10G>T NP_001307857.1:n.1231+10G>T
ENST00000370397.7:c.1231+10G>T ENSP00000359424.6:n.1231+10G>T
XM_011539196.1:c.1231+10G>T XP_011537498.1:n.1231+10G>T
XM_011539197.1:c.1231+10G>T XP_011537499.1:n.1231+10G>T
XM_011539198.1:c.1231+10G>T XP_011537500.1:n.1231+10G>T
XM_017015611.1:c.1231+10G>T XP_016871100.1:n.1231+10G>T
XM_017015612.1:c.1231+10G>T XP_016871101.1:n.1231+10G>T
XM_017015613.1:c.20-2021G>T XP_016871102.1:n.20-2021G>T
XR_001747010.1:n.1309+10G>T
XR_001747011.1:n.1207-2021G>T
XR_945589.1:n.1309+10G>T
XR_945590.1:n.1207-2021G>T