Canonical Allele Identifier: CA382017275
Gene: HIKESHI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86306368G>C , CM000673.2:g.86306368G>C GRCh38
NC_000011.9:g.86017410G>C , CM000673.1:g.86017410G>C GRCh37
NC_000011.8:g.85695058G>C NCBI36
NG_046865.1:g.9158G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000278483.8:c.154G>C MANE Select ENSP00000278483.3:p.Gly52Arg
ENST00000278483.7:c.154G>C ENSP00000278483.3:p.Gly52Arg
ENST00000528004.5:c.154G>C ENSP00000433815.1:p.Gly52Arg
ENST00000530208.1:n.229G>C
ENST00000531485.5:n.236+3890G>C
ENST00000532270.5:n.493G>C
ENST00000533986.5:c.154G>C ENSP00000432699.1:p.Gly52Arg
ENST00000618164.1:c.-44G>C ENSP00000482151.1:n.-44G>C
NM_016401.3:c.154G>C NP_057485.2:p.Gly52Arg
NR_024596.1:n.229G>C
NR_024597.1:n.268+3890G>C
NR_024598.1:n.268+3890G>C
XM_011545097.1:c.37G>C XP_011543399.1:p.Gly13Arg
XR_949963.1:n.377G>C
NM_001322404.1:c.154G>C NP_001309333.1:p.Gly52Arg
NM_001322407.1:c.37G>C NP_001309336.1:p.Gly13Arg
NM_001322409.1:c.37G>C NP_001309338.1:p.Gly13Arg
NR_136324.1:n.376G>C
XM_017017914.2:c.154G>C XP_016873403.1:p.Gly52Arg
XM_017017915.1:c.37G>C XP_016873404.1:p.Gly13Arg
XR_001747904.2:n.363G>C
XR_949963.3:n.363G>C
NM_016401.4:c.154G>C MANE Select NP_057485.2:p.Gly52Arg
NM_001322404.2:c.154G>C NP_001309333.1:p.Gly52Arg
NM_001322407.2:c.37G>C NP_001309336.1:p.Gly13Arg
NM_001322409.2:c.37G>C NP_001309338.1:p.Gly13Arg
NR_024597.2:n.239+3890G>C
NR_024598.2:n.239+3890G>C
NR_136324.2:n.363G>C