Canonical Allele Identifier: CA382017745

Gene: HIKESHI

Linked Data

• gnomAD v4: 11-86306452-G-A
• MyVariant Identifiers: chr11:g.86017494G>A (hg19) ; chr11:g.86306452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306452G>A , CM000673.2:g.86306452G>A	GRCh38
NC_000011.9:g.86017494G>A , CM000673.1:g.86017494G>A	GRCh37
NC_000011.8:g.85695142G>A	NCBI36
NG_046865.1:g.9242G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000278483.8:c.238G>A MANE Select	ENSP00000278483.3:p.Ala80Thr
ENST00000278483.7:c.238G>A	ENSP00000278483.3:p.Ala80Thr
ENST00000528004.5:c.238G>A	ENSP00000433815.1:p.Ala80Thr
ENST00000530208.1:n.313G>A
ENST00000531485.5:n.236+3974G>A
ENST00000532270.5:n.577G>A
ENST00000533986.5:c.238G>A	ENSP00000432699.1:p.Ala80Thr
ENST00000618164.1:c.40G>A	ENSP00000482151.1:p.Ala14Thr
NM_016401.3:c.238G>A	NP_057485.2:p.Ala80Thr
NR_024596.1:n.313G>A
NR_024597.1:n.268+3974G>A
NR_024598.1:n.268+3974G>A
XM_011545097.1:c.121G>A	XP_011543399.1:p.Ala41Thr
XR_949963.1:n.461G>A
NM_001322404.1:c.238G>A	NP_001309333.1:p.Ala80Thr
NM_001322407.1:c.121G>A	NP_001309336.1:p.Ala41Thr
NM_001322409.1:c.121G>A	NP_001309338.1:p.Ala41Thr
NR_136324.1:n.460G>A
XM_017017914.2:c.238G>A	XP_016873403.1:p.Ala80Thr
XM_017017915.1:c.121G>A	XP_016873404.1:p.Ala41Thr
XR_001747904.2:n.447G>A
XR_949963.3:n.447G>A
NM_016401.4:c.238G>A MANE Select	NP_057485.2:p.Ala80Thr
NM_001322404.2:c.238G>A	NP_001309333.1:p.Ala80Thr
NM_001322407.2:c.121G>A	NP_001309336.1:p.Ala41Thr
NM_001322409.2:c.121G>A	NP_001309338.1:p.Ala41Thr
NR_024597.2:n.239+3974G>A
NR_024598.2:n.239+3974G>A
NR_136324.2:n.447G>A