Canonical Allele Identifier: CA16605793

Gene: CHUK

Linked Data

• ClinVar Variation Id: 392997
• ClinVar RCV Id: RCV000438647
• dbSNP Id: rs1057524734
• MyVariant Identifiers: chr10:g.101953757A>C (hg19) ; chr10:g.100194000A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100194000A>C , CM000672.2:g.100194000A>C	GRCh38
NC_000010.10:g.101953757A>C , CM000672.1:g.101953757A>C	GRCh37
NC_000010.9:g.101943747A>C	NCBI36
NG_028023.1:g.40588T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370397.8:c.1958T>G MANE Select	ENSP00000359424.6:p.Leu653Arg
ENST00000370397.7:c.1958T>G	ENSP00000359424.6:p.Leu653Arg
ENST00000588656.1:n.80T>G
ENST00000590930.5:n.1943T>G
NM_001278.3:c.1958T>G	NP_001269.3:p.Leu653Arg
XM_011539196.1:c.1958T>G	XP_011537498.1:p.Leu653Arg
XM_011539197.1:c.1958T>G	XP_011537499.1:p.Leu653Arg
XM_011539198.1:c.1958T>G	XP_011537500.1:p.Leu653Arg
XR_945589.1:n.2036T>G
NM_001278.4:c.1958T>G	NP_001269.3:p.Leu653Arg
NM_001320928.1:c.1958T>G	NP_001307857.1:p.Leu653Arg
XM_017015611.1:c.1958T>G	XP_016871100.1:p.Leu653Arg
XM_017015613.1:c.746T>G	XP_016871102.1:p.Leu249Arg
XR_001747010.1:n.2036T>G
XR_001747011.1:n.1933T>G
NM_001278.5:c.1958T>G MANE Select	NP_001269.3:p.Leu653Arg
NM_001320928.2:c.1958T>G	NP_001307857.1:p.Leu653Arg