Canonical Allele Identifier: CA3001622913
Community Standard Title: NM_153498.4(CAMK1D):c.224+48764A>C
Gene: CAMK1D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.12602120A>C , CM000672.2:g.12602120A>C GRCh38
NC_000010.10:g.12644119A>C , CM000672.1:g.12644119A>C GRCh37
NC_000010.9:g.12684125A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_153498.4:c.224+48764A>C MANE Select NP_705718.1:n.224+48764A>C
ENST00000619168.5:c.224+48764A>C MANE Select ENSP00000478874.1:n.224+48764A>C
NM_001351032.1:c.-68+48764A>C NP_001337961.1:n.-68+48764A>C
NM_001351032.2:c.-68+48764A>C NP_001337961.1:n.-68+48764A>C
NM_020397.3:c.224+48764A>C NP_065130.1:n.224+48764A>C
NM_020397.4:c.224+48764A>C NP_065130.1:n.224+48764A>C
NM_153498.3:c.224+48764A>C NP_705718.1:n.224+48764A>C
ENST00000378845.5:c.224+48764A>C ENSP00000368122.1:n.224+48764A>C
ENST00000487696.1:n.260-64616A>C
ENST00000619168.4:c.224+48764A>C ENSP00000478874.1:n.224+48764A>C
XM_006717481.2:c.167+48764A>C XP_006717544.1:n.167+48764A>C
XM_006717482.2:c.224+48764A>C XP_006717545.1:n.224+48764A>C
XM_006717482.3:c.224+48764A>C XP_006717545.1:n.224+48764A>C
XM_006717483.2:c.224+48764A>C XP_006717546.1:n.224+48764A>C
XM_006717483.4:c.224+48764A>C XP_006717546.1:n.224+48764A>C
XM_011519591.1:c.185+48764A>C XP_011517893.1:n.185+48764A>C
XM_011519591.3:c.185+48764A>C XP_011517893.1:n.185+48764A>C
XM_017016438.2:c.-68+48764A>C XP_016871927.1:n.-68+48764A>C
XM_024448087.1:c.-68+48764A>C XP_024303855.1:n.-68+48764A>C