Canonical Allele Identifier: CA471149301

Gene: CHUK

Linked Data

• ClinVar Variation Id: 2787517
• ClinVar RCV Id: RCV003669503
• MyVariant Identifiers: chr10:g.101953779T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100194022T>G , CM000672.2:g.100194022T>G	GRCh38
NC_000010.10:g.101953779T>G , CM000672.1:g.101953779T>G	GRCh37
NC_000010.9:g.101943769T>G	NCBI36
NG_028023.1:g.40566A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370397.8:c.1936A>C MANE Select	ENSP00000359424.6:p.Arg646=
ENST00000370397.7:c.1936A>C	ENSP00000359424.6:p.Arg646=
ENST00000588656.1:n.58A>C
ENST00000590930.5:n.1921A>C
NM_001278.3:c.1936A>C	NP_001269.3:p.Arg646=
XM_011539196.1:c.1936A>C	XP_011537498.1:p.Arg646=
XM_011539197.1:c.1936A>C	XP_011537499.1:p.Arg646=
XM_011539198.1:c.1936A>C	XP_011537500.1:p.Arg646=
XR_945589.1:n.2014A>C
NM_001278.4:c.1936A>C	NP_001269.3:p.Arg646=
NM_001320928.1:c.1936A>C	NP_001307857.1:p.Arg646=
XM_017015611.1:c.1936A>C	XP_016871100.1:p.Arg646=
XM_017015613.1:c.724A>C	XP_016871102.1:p.Arg242=
XR_001747010.1:n.2014A>C
XR_001747011.1:n.1911A>C
NM_001278.5:c.1936A>C MANE Select	NP_001269.3:p.Arg646=
NM_001320928.2:c.1936A>C	NP_001307857.1:p.Arg646=