Canonical Allele Identifier: CA382016057
Gene: HIKESHI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86306246T>A , CM000673.2:g.86306246T>A GRCh38
NC_000011.9:g.86017288T>A , CM000673.1:g.86017288T>A GRCh37
NC_000011.8:g.85694936T>A NCBI36
NG_046865.1:g.9036T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000278483.8:c.32T>A MANE Select ENSP00000278483.3:p.Val11Glu
ENST00000278483.7:c.32T>A ENSP00000278483.3:p.Val11Glu
ENST00000528004.5:c.32T>A ENSP00000433815.1:p.Val11Glu
ENST00000530208.1:n.107T>A
ENST00000531485.5:n.236+3768T>A
ENST00000532270.5:n.371T>A
ENST00000533986.5:c.32T>A ENSP00000432699.1:p.Val11Glu
NM_016401.3:c.32T>A NP_057485.2:p.Val11Glu
NR_024596.1:n.107T>A
NR_024597.1:n.268+3768T>A
NR_024598.1:n.268+3768T>A
XM_011545097.1:c.-86T>A XP_011543399.1:n.-86T>A
XR_949963.1:n.255T>A
NM_001322404.1:c.32T>A NP_001309333.1:p.Val11Glu
NM_001322407.1:c.-86T>A NP_001309336.1:n.-86T>A
NM_001322409.1:c.-86T>A NP_001309338.1:n.-86T>A
NR_136324.1:n.254T>A
XM_017017914.2:c.32T>A XP_016873403.1:p.Val11Glu
XM_017017915.1:c.-86T>A XP_016873404.1:n.-86T>A
XR_001747904.2:n.241T>A
XR_949963.3:n.241T>A
NM_016401.4:c.32T>A MANE Select NP_057485.2:p.Val11Glu
NM_001322404.2:c.32T>A NP_001309333.1:p.Val11Glu
NM_001322407.2:c.-86T>A NP_001309336.1:n.-86T>A
NM_001322409.2:c.-86T>A NP_001309338.1:n.-86T>A
NR_024597.2:n.239+3768T>A
NR_024598.2:n.239+3768T>A
NR_136324.2:n.241T>A