Canonical Allele Identifier: CA389858843
Community Standard Title: NC_000014.9:g.58427638G>A
Gene: KIAA0586 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.58427638G>A , CM000676.2:g.58427638G>A GRCh38
NC_000014.8:g.58894356G>A , CM000676.1:g.58894356G>A GRCh37
NC_000014.7:g.57964109G>A NCBI36
NG_051335.2:g.5254G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001244189.1:c.9+1G>A NP_001231118.1:n.9+1G>A
NM_001244189.2:c.9+1G>A NP_001231118.1:n.9+1G>A
NM_001244190.1:c.-39+1G>A NP_001231119.1:n.-39+1G>A
NM_001244190.2:c.-39+1G>A NP_001231119.1:n.-39+1G>A
NM_001244191.1:c.-57+1G>A NP_001231120.1:n.-57+1G>A
NM_001244191.2:c.-57+1G>A NP_001231120.1:n.-57+1G>A
NM_001244192.1:c.-57+1G>A NP_001231121.1:n.-57+1G>A
NM_001244192.2:c.-57+1G>A NP_001231121.1:n.-57+1G>A
ENST00000354386.10:c.9+1G>A ENSP00000346359.6:n.9+1G>A
ENST00000423743.7:c.-57+1G>A ENSP00000399427.3:n.-57+1G>A
ENST00000556134.5:c.-249+1G>A ENSP00000452351.2:n.-249+1G>A
ENST00000619416.4:c.-39+1G>A ENSP00000478083.1:n.-39+1G>A
ENST00000619722.4:c.-57+1G>A ENSP00000481936.1:n.-57+1G>A
ENST00000619722.5:c.-57+1G>A ENSP00000481936.1:n.-57+1G>A
XM_024449784.1:c.-57+1G>A XP_024305552.1:n.-57+1G>A