Canonical Allele Identifier: CA382017750

Gene: HIKESHI

Linked Data

• MyVariant Identifiers: chr11:g.86017495C>T (hg19) ; chr11:g.86306453C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306453C>T , CM000673.2:g.86306453C>T	GRCh38
NC_000011.9:g.86017495C>T , CM000673.1:g.86017495C>T	GRCh37
NC_000011.8:g.85695143C>T	NCBI36
NG_046865.1:g.9243C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000278483.8:c.239C>T MANE Select	ENSP00000278483.3:p.Ala80Val
ENST00000278483.7:c.239C>T	ENSP00000278483.3:p.Ala80Val
ENST00000528004.5:c.239C>T	ENSP00000433815.1:p.Ala80Val
ENST00000530208.1:n.314C>T
ENST00000531485.5:n.236+3975C>T
ENST00000532270.5:n.578C>T
ENST00000533986.5:c.239C>T	ENSP00000432699.1:p.Ala80Val
ENST00000618164.1:c.41C>T	ENSP00000482151.1:p.Ala14Val
NM_016401.3:c.239C>T	NP_057485.2:p.Ala80Val
NR_024596.1:n.314C>T
NR_024597.1:n.268+3975C>T
NR_024598.1:n.268+3975C>T
XM_011545097.1:c.122C>T	XP_011543399.1:p.Ala41Val
XR_949963.1:n.462C>T
NM_001322404.1:c.239C>T	NP_001309333.1:p.Ala80Val
NM_001322407.1:c.122C>T	NP_001309336.1:p.Ala41Val
NM_001322409.1:c.122C>T	NP_001309338.1:p.Ala41Val
NR_136324.1:n.461C>T
XM_017017914.2:c.239C>T	XP_016873403.1:p.Ala80Val
XM_017017915.1:c.122C>T	XP_016873404.1:p.Ala41Val
XR_001747904.2:n.448C>T
XR_949963.3:n.448C>T
NM_016401.4:c.239C>T MANE Select	NP_057485.2:p.Ala80Val
NM_001322404.2:c.239C>T	NP_001309333.1:p.Ala80Val
NM_001322407.2:c.122C>T	NP_001309336.1:p.Ala41Val
NM_001322409.2:c.122C>T	NP_001309338.1:p.Ala41Val
NR_024597.2:n.239+3975C>T
NR_024598.2:n.239+3975C>T
NR_136324.2:n.448C>T