Canonical Allele Identifier: CA13143915
Gene: CAMK1D HGNC NCBI
COSMIC:
COSN17602353 (not active)
MyVariant.info:
GRCh38 chr10:g.12633062G>A
GRCh37 chr10:g.12675061G>A
gnomAD v2:
10:12675061 G / A
gnomAD v3:
10:12633062 G / A
gnomAD v4:
chr10-12633062-G-A
Joint Max Group AF 0.57284446 (SAS)
Genomes Max Group AF 0.57284446 (SAS)
dbSNP:
10906189
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12633062G>A , CM000672.2:g.12633062G>A GRCh38
NC_000010.10:g.12675061G>A , CM000672.1:g.12675061G>A GRCh37
NC_000010.9:g.12715067G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000619168.5:c.225-33674G>A MANE Select ENSP00000478874.1:n.225-33674G>A
ENST00000378845.5:c.225-33674G>A ENSP00000368122.1:n.225-33674G>A
ENST00000487696.1:n.260-33674G>A
ENST00000619168.4:c.225-33674G>A ENSP00000478874.1:n.225-33674G>A
NM_020397.3:c.225-33674G>A NP_065130.1:n.225-33674G>A
NM_153498.3:c.225-33674G>A NP_705718.1:n.225-33674G>A
XM_006717481.2:c.168-33674G>A XP_006717544.1:n.168-33674G>A
XM_006717482.2:c.225-33674G>A XP_006717545.1:n.225-33674G>A
XM_006717483.2:c.225-33674G>A XP_006717546.1:n.225-33674G>A
XM_011519591.1:c.186-33674G>A XP_011517893.1:n.186-33674G>A
NM_001351032.1:c.-67-33674G>A NP_001337961.1:n.-67-33674G>A
XM_006717482.3:c.225-33674G>A XP_006717545.1:n.225-33674G>A
XM_006717483.4:c.225-33674G>A XP_006717546.1:n.225-33674G>A
XM_011519591.3:c.186-33674G>A XP_011517893.1:n.186-33674G>A
XM_017016438.2:c.-67-33674G>A XP_016871927.1:n.-67-33674G>A
XM_024448087.1:c.-67-33674G>A XP_024303855.1:n.-67-33674G>A
NM_001351032.2:c.-67-33674G>A NP_001337961.1:n.-67-33674G>A
NM_020397.4:c.225-33674G>A NP_065130.1:n.225-33674G>A
NM_153498.4:c.225-33674G>A MANE Select NP_705718.1:n.225-33674G>A
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