Canonical Allele Identifier: CA6216689

Gene: HIKESHI

Linked Data

• dbSNP Id: rs759491264
• ExAC: 11:86017493 T / G
• gnomAD v4: 11-86306451-T-G
• MyVariant Identifiers: chr11:g.86017493T>G (hg19) ; chr11:g.86306451T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306451T>G , CM000673.2:g.86306451T>G	GRCh38
NC_000011.9:g.86017493T>G , CM000673.1:g.86017493T>G	GRCh37
NC_000011.8:g.85695141T>G	NCBI36
NG_046865.1:g.9241T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000278483.8:c.237T>G MANE Select	ENSP00000278483.3:p.Ser79Arg
ENST00000278483.7:c.237T>G	ENSP00000278483.3:p.Ser79Arg
ENST00000528004.5:c.237T>G	ENSP00000433815.1:p.Ser79Arg
ENST00000530208.1:n.312T>G
ENST00000531485.5:n.236+3973T>G
ENST00000532270.5:n.576T>G
ENST00000533986.5:c.237T>G	ENSP00000432699.1:p.Ser79Arg
ENST00000618164.1:c.39T>G	ENSP00000482151.1:p.Ser13Arg
NM_016401.3:c.237T>G	NP_057485.2:p.Ser79Arg
NR_024596.1:n.312T>G
NR_024597.1:n.268+3973T>G
NR_024598.1:n.268+3973T>G
XM_011545097.1:c.120T>G	XP_011543399.1:p.Ser40Arg
XR_949963.1:n.460T>G
NM_001322404.1:c.237T>G	NP_001309333.1:p.Ser79Arg
NM_001322407.1:c.120T>G	NP_001309336.1:p.Ser40Arg
NM_001322409.1:c.120T>G	NP_001309338.1:p.Ser40Arg
NR_136324.1:n.459T>G
XM_017017914.2:c.237T>G	XP_016873403.1:p.Ser79Arg
XM_017017915.1:c.120T>G	XP_016873404.1:p.Ser40Arg
XR_001747904.2:n.446T>G
XR_949963.3:n.446T>G
NM_016401.4:c.237T>G MANE Select	NP_057485.2:p.Ser79Arg
NM_001322404.2:c.237T>G	NP_001309333.1:p.Ser79Arg
NM_001322407.2:c.120T>G	NP_001309336.1:p.Ser40Arg
NM_001322409.2:c.120T>G	NP_001309338.1:p.Ser40Arg
NR_024597.2:n.239+3973T>G
NR_024598.2:n.239+3973T>G
NR_136324.2:n.446T>G