Canonical Allele Identifier: CA476144171
Gene: HIKESHI HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.86017484G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86306442G>C , CM000673.2:g.86306442G>C GRCh38
NC_000011.9:g.86017484G>C , CM000673.1:g.86017484G>C GRCh37
NC_000011.8:g.85695132G>C NCBI36
NG_046865.1:g.9232G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000278483.8:c.228G>C MANE Select ENSP00000278483.3:p.Gly76=
ENST00000278483.7:c.228G>C ENSP00000278483.3:p.Gly76=
ENST00000528004.5:c.228G>C ENSP00000433815.1:p.Gly76=
ENST00000530208.1:n.303G>C
ENST00000531485.5:n.236+3964G>C
ENST00000532270.5:n.567G>C
ENST00000533986.5:c.228G>C ENSP00000432699.1:p.Gly76=
ENST00000618164.1:c.30G>C ENSP00000482151.1:p.Gly10=
NM_016401.3:c.228G>C NP_057485.2:p.Gly76=
NR_024596.1:n.303G>C
NR_024597.1:n.268+3964G>C
NR_024598.1:n.268+3964G>C
XM_011545097.1:c.111G>C XP_011543399.1:p.Gly37=
XR_949963.1:n.451G>C
NM_001322404.1:c.228G>C NP_001309333.1:p.Gly76=
NM_001322407.1:c.111G>C NP_001309336.1:p.Gly37=
NM_001322409.1:c.111G>C NP_001309338.1:p.Gly37=
NR_136324.1:n.450G>C
XM_017017914.2:c.228G>C XP_016873403.1:p.Gly76=
XM_017017915.1:c.111G>C XP_016873404.1:p.Gly37=
XR_001747904.2:n.437G>C
XR_949963.3:n.437G>C
NM_016401.4:c.228G>C MANE Select NP_057485.2:p.Gly76=
NM_001322404.2:c.228G>C NP_001309333.1:p.Gly76=
NM_001322407.2:c.111G>C NP_001309336.1:p.Gly37=
NM_001322409.2:c.111G>C NP_001309338.1:p.Gly37=
NR_024597.2:n.239+3964G>C
NR_024598.2:n.239+3964G>C
NR_136324.2:n.437G>C