Canonical Allele Identifier: CA212888349

Gene: CHUK

Linked Data

• dbSNP Id: rs542692961
• gnomAD v2: 10-101953613-A-G
• gnomAD v3: 10-100193856-A-G
• gnomAD v4: 10-100193856-A-G
• MyVariant Identifiers: chr10:g.101953613A>G (hg19) ; chr10:g.100193856A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100193856A>G , CM000672.2:g.100193856A>G	GRCh38
NC_000010.10:g.101953613A>G , CM000672.1:g.101953613A>G	GRCh37
NC_000010.9:g.101943603A>G	NCBI36
NG_028023.1:g.40732T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370397.8:c.1974+128T>C MANE Select	ENSP00000359424.6:n.1974+128T>C
ENST00000370397.7:c.1974+128T>C	ENSP00000359424.6:n.1974+128T>C
ENST00000588656.1:n.96+128T>C
ENST00000590930.5:n.2087T>C
NM_001278.3:c.1974+128T>C	NP_001269.3:n.1974+128T>C
XM_011539196.1:c.1974+128T>C	XP_011537498.1:n.1974+128T>C
XM_011539197.1:c.1974+128T>C	XP_011537499.1:n.1974+128T>C
XM_011539198.1:c.1974+128T>C	XP_011537500.1:n.1974+128T>C
XR_945589.1:n.2052+128T>C
NM_001278.4:c.1974+128T>C	NP_001269.3:n.1974+128T>C
NM_001320928.1:c.1974+128T>C	NP_001307857.1:n.1974+128T>C
XM_017015611.1:c.1974+128T>C	XP_016871100.1:n.1974+128T>C
XM_017015613.1:c.762+128T>C	XP_016871102.1:n.762+128T>C
XR_001747010.1:n.2052+128T>C
XR_001747011.1:n.1949+128T>C
NM_001278.5:c.1974+128T>C MANE Select	NP_001269.3:n.1974+128T>C
NM_001320928.2:c.1974+128T>C	NP_001307857.1:n.1974+128T>C