Canonical Allele Identifier: CA382017738

Gene: HIKESHI

Linked Data

• MyVariant Identifiers: chr11:g.86017491A>C (hg19) ; chr11:g.86306449A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306449A>C , CM000673.2:g.86306449A>C	GRCh38
NC_000011.9:g.86017491A>C , CM000673.1:g.86017491A>C	GRCh37
NC_000011.8:g.85695139A>C	NCBI36
NG_046865.1:g.9239A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000278483.8:c.235A>C MANE Select	ENSP00000278483.3:p.Ser79Arg
ENST00000278483.7:c.235A>C	ENSP00000278483.3:p.Ser79Arg
ENST00000528004.5:c.235A>C	ENSP00000433815.1:p.Ser79Arg
ENST00000530208.1:n.310A>C
ENST00000531485.5:n.236+3971A>C
ENST00000532270.5:n.574A>C
ENST00000533986.5:c.235A>C	ENSP00000432699.1:p.Ser79Arg
ENST00000618164.1:c.37A>C	ENSP00000482151.1:p.Ser13Arg
NM_016401.3:c.235A>C	NP_057485.2:p.Ser79Arg
NR_024596.1:n.310A>C
NR_024597.1:n.268+3971A>C
NR_024598.1:n.268+3971A>C
XM_011545097.1:c.118A>C	XP_011543399.1:p.Ser40Arg
XR_949963.1:n.458A>C
NM_001322404.1:c.235A>C	NP_001309333.1:p.Ser79Arg
NM_001322407.1:c.118A>C	NP_001309336.1:p.Ser40Arg
NM_001322409.1:c.118A>C	NP_001309338.1:p.Ser40Arg
NR_136324.1:n.457A>C
XM_017017914.2:c.235A>C	XP_016873403.1:p.Ser79Arg
XM_017017915.1:c.118A>C	XP_016873404.1:p.Ser40Arg
XR_001747904.2:n.444A>C
XR_949963.3:n.444A>C
NM_016401.4:c.235A>C MANE Select	NP_057485.2:p.Ser79Arg
NM_001322404.2:c.235A>C	NP_001309333.1:p.Ser79Arg
NM_001322407.2:c.118A>C	NP_001309336.1:p.Ser40Arg
NM_001322409.2:c.118A>C	NP_001309338.1:p.Ser40Arg
NR_024597.2:n.239+3971A>C
NR_024598.2:n.239+3971A>C
NR_136324.2:n.444A>C