Canonical Allele Identifier: CA382016103
Gene: HIKESHI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86306250A>T , CM000673.2:g.86306250A>T GRCh38
NC_000011.9:g.86017292A>T , CM000673.1:g.86017292A>T GRCh37
NC_000011.8:g.85694940A>T NCBI36
NG_046865.1:g.9040A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000278483.8:c.36A>T MANE Select ENSP00000278483.3:p.Gln12His
ENST00000278483.7:c.36A>T ENSP00000278483.3:p.Gln12His
ENST00000528004.5:c.36A>T ENSP00000433815.1:p.Gln12His
ENST00000530208.1:n.111A>T
ENST00000531485.5:n.236+3772A>T
ENST00000532270.5:n.375A>T
ENST00000533986.5:c.36A>T ENSP00000432699.1:p.Gln12His
NM_016401.3:c.36A>T NP_057485.2:p.Gln12His
NR_024596.1:n.111A>T
NR_024597.1:n.268+3772A>T
NR_024598.1:n.268+3772A>T
XM_011545097.1:c.-82A>T XP_011543399.1:n.-82A>T
XR_949963.1:n.259A>T
NM_001322404.1:c.36A>T NP_001309333.1:p.Gln12His
NM_001322407.1:c.-82A>T NP_001309336.1:n.-82A>T
NM_001322409.1:c.-82A>T NP_001309338.1:n.-82A>T
NR_136324.1:n.258A>T
XM_017017914.2:c.36A>T XP_016873403.1:p.Gln12His
XM_017017915.1:c.-82A>T XP_016873404.1:n.-82A>T
XR_001747904.2:n.245A>T
XR_949963.3:n.245A>T
NM_016401.4:c.36A>T MANE Select NP_057485.2:p.Gln12His
NM_001322404.2:c.36A>T NP_001309333.1:p.Gln12His
NM_001322407.2:c.-82A>T NP_001309336.1:n.-82A>T
NM_001322409.2:c.-82A>T NP_001309338.1:n.-82A>T
NR_024597.2:n.239+3772A>T
NR_024598.2:n.239+3772A>T
NR_136324.2:n.245A>T