Canonical Allele Identifier: CA1806580431
Community Standard Title: NC_000008.11:g.101989345T>G
Gene: NCALD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.101989345T>G , CM000670.2:g.101989345T>G GRCh38
NC_000008.10:g.103001573T>G , CM000670.1:g.103001573T>G GRCh37
NC_000008.9:g.103070749T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001040624.1:c.-157+30892A>C NP_001035714.1:n.-157+30892A>C
NM_001040624.2:c.-157+30892A>C NP_001035714.1:n.-157+30892A>C
NM_001040625.1:c.-70+30892A>C NP_001035715.1:n.-70+30892A>C
NM_001040625.2:c.-70+30892A>C NP_001035715.1:n.-70+30892A>C
NM_001040626.1:c.-157+30892A>C NP_001035716.1:n.-157+30892A>C
NM_001040626.2:c.-157+30892A>C NP_001035716.1:n.-157+30892A>C
NM_001040627.1:c.-70+30892A>C NP_001035717.1:n.-70+30892A>C
NM_001040627.2:c.-70+30892A>C NP_001035717.1:n.-70+30892A>C
NM_001040628.1:c.-126+30892A>C NP_001035718.1:n.-126+30892A>C
NM_001040628.2:c.-126+30892A>C NP_001035718.1:n.-126+30892A>C
NM_001040629.1:c.-126+30892A>C NP_001035719.1:n.-126+30892A>C
NM_001040629.2:c.-126+30892A>C NP_001035719.1:n.-126+30892A>C
NM_001040630.1:c.-70+30892A>C NP_001035720.1:n.-70+30892A>C
NM_001040630.2:c.-70+30892A>C NP_001035720.1:n.-70+30892A>C
NR_126152.1:n.1684+1406T>G
ENST00000311028.4:c.-157+30892A>C ENSP00000310587.3:n.-157+30892A>C
ENST00000395923.5:c.-70+30892A>C ENSP00000379256.1:n.-70+30892A>C
ENST00000517531.5:c.-70+30892A>C ENSP00000429245.1:n.-70+30892A>C
ENST00000517639.5:n.78+30892A>C
ENST00000517822.5:c.-169+30892A>C ENSP00000428312.1:n.-169+30892A>C
ENST00000518166.5:c.-70+30892A>C ENSP00000429522.1:n.-70+30892A>C
ENST00000518661.5:c.-157+30892A>C ENSP00000428093.1:n.-157+30892A>C
ENST00000518952.5:n.78+30892A>C
ENST00000521599.5:c.-70+30892A>C ENSP00000428105.1:n.-70+30892A>C
ENST00000521964.5:c.-157+30892A>C ENSP00000430064.1:n.-157+30892A>C
ENST00000522078.5:c.-157+30892A>C ENSP00000429162.1:n.-157+30892A>C
ENST00000522206.5:c.-70+30892A>C ENSP00000429296.1:n.-70+30892A>C
ENST00000523923.5:c.-225+30892A>C ENSP00000428193.1:n.-225+30892A>C
ENST00000524209.5:c.-160+30892A>C ENSP00000429493.1:n.-160+30892A>C
XM_011517333.1:c.-225+30892A>C XP_011515635.1:n.-225+30892A>C
XM_011517333.2:c.-225+30892A>C XP_011515635.1:n.-225+30892A>C
XM_017013900.1:c.373+30892A>C XP_016869389.1:n.373+30892A>C
XM_017013901.1:c.-157+30892A>C XP_016869390.1:n.-157+30892A>C
XM_024447296.1:c.-70+30892A>C XP_024303064.1:n.-70+30892A>C
XM_024447297.1:c.-157+30892A>C XP_024303065.1:n.-157+30892A>C
XM_024447298.1:c.-233+30892A>C XP_024303066.1:n.-233+30892A>C
XM_024447299.1:c.-169+30892A>C XP_024303067.1:n.-169+30892A>C
XM_024447300.1:c.-160+30892A>C XP_024303068.1:n.-160+30892A>C
XM_024447301.1:c.-233+30892A>C XP_024303069.1:n.-233+30892A>C
XR_001745607.1:n.467+30892A>C