Canonical Allele Identifier: CA382016253
Gene: HIKESHI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86306261A>C , CM000673.2:g.86306261A>C GRCh38
NC_000011.9:g.86017303A>C , CM000673.1:g.86017303A>C GRCh37
NC_000011.8:g.85694951A>C NCBI36
NG_046865.1:g.9051A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000278483.8:c.47A>C MANE Select ENSP00000278483.3:p.Gln16Pro
ENST00000278483.7:c.47A>C ENSP00000278483.3:p.Gln16Pro
ENST00000528004.5:c.47A>C ENSP00000433815.1:p.Gln16Pro
ENST00000530208.1:n.122A>C
ENST00000531485.5:n.236+3783A>C
ENST00000532270.5:n.386A>C
ENST00000533986.5:c.47A>C ENSP00000432699.1:p.Gln16Pro
NM_016401.3:c.47A>C NP_057485.2:p.Gln16Pro
NR_024596.1:n.122A>C
NR_024597.1:n.268+3783A>C
NR_024598.1:n.268+3783A>C
XM_011545097.1:c.-71A>C XP_011543399.1:n.-71A>C
XR_949963.1:n.270A>C
NM_001322404.1:c.47A>C NP_001309333.1:p.Gln16Pro
NM_001322407.1:c.-71A>C NP_001309336.1:n.-71A>C
NM_001322409.1:c.-71A>C NP_001309338.1:n.-71A>C
NR_136324.1:n.269A>C
XM_017017914.2:c.47A>C XP_016873403.1:p.Gln16Pro
XM_017017915.1:c.-71A>C XP_016873404.1:n.-71A>C
XR_001747904.2:n.256A>C
XR_949963.3:n.256A>C
NM_016401.4:c.47A>C MANE Select NP_057485.2:p.Gln16Pro
NM_001322404.2:c.47A>C NP_001309333.1:p.Gln16Pro
NM_001322407.2:c.-71A>C NP_001309336.1:n.-71A>C
NM_001322409.2:c.-71A>C NP_001309338.1:n.-71A>C
NR_024597.2:n.239+3783A>C
NR_024598.2:n.239+3783A>C
NR_136324.2:n.256A>C