Canonical Allele Identifier: CA382017719

Gene: HIKESHI

Linked Data

• MyVariant Identifiers: chr11:g.86017482G>C (hg19) ; chr11:g.86306440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306440G>C , CM000673.2:g.86306440G>C	GRCh38
NC_000011.9:g.86017482G>C , CM000673.1:g.86017482G>C	GRCh37
NC_000011.8:g.85695130G>C	NCBI36
NG_046865.1:g.9230G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278483.8:c.226G>C MANE Select	ENSP00000278483.3:p.Gly76Arg
ENST00000278483.7:c.226G>C	ENSP00000278483.3:p.Gly76Arg
ENST00000528004.5:c.226G>C	ENSP00000433815.1:p.Gly76Arg
ENST00000530208.1:n.301G>C
ENST00000531485.5:n.236+3962G>C
ENST00000532270.5:n.565G>C
ENST00000533986.5:c.226G>C	ENSP00000432699.1:p.Gly76Arg
ENST00000618164.1:c.28G>C	ENSP00000482151.1:p.Gly10Arg
NM_016401.3:c.226G>C	NP_057485.2:p.Gly76Arg
NR_024596.1:n.301G>C
NR_024597.1:n.268+3962G>C
NR_024598.1:n.268+3962G>C
XM_011545097.1:c.109G>C	XP_011543399.1:p.Gly37Arg
XR_949963.1:n.449G>C
NM_001322404.1:c.226G>C	NP_001309333.1:p.Gly76Arg
NM_001322407.1:c.109G>C	NP_001309336.1:p.Gly37Arg
NM_001322409.1:c.109G>C	NP_001309338.1:p.Gly37Arg
NR_136324.1:n.448G>C
XM_017017914.2:c.226G>C	XP_016873403.1:p.Gly76Arg
XM_017017915.1:c.109G>C	XP_016873404.1:p.Gly37Arg
XR_001747904.2:n.435G>C
XR_949963.3:n.435G>C
NM_016401.4:c.226G>C MANE Select	NP_057485.2:p.Gly76Arg
NM_001322404.2:c.226G>C	NP_001309333.1:p.Gly76Arg
NM_001322407.2:c.109G>C	NP_001309336.1:p.Gly37Arg
NM_001322409.2:c.109G>C	NP_001309338.1:p.Gly37Arg
NR_024597.2:n.239+3962G>C
NR_024598.2:n.239+3962G>C
NR_136324.2:n.435G>C