Canonical Allele Identifier: CA382017404

Gene: HIKESHI

Linked Data

• dbSNP Id: rs749726674
• gnomAD v4: 11-86306388-T-A
• MyVariant Identifiers: chr11:g.86017430T>A (hg19) ; chr11:g.86306388T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306388T>A , CM000673.2:g.86306388T>A	GRCh38
NC_000011.9:g.86017430T>A , CM000673.1:g.86017430T>A	GRCh37
NC_000011.8:g.85695078T>A	NCBI36
NG_046865.1:g.9178T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278483.8:c.174T>A MANE Select	ENSP00000278483.3:p.Tyr58Ter
ENST00000278483.7:c.174T>A	ENSP00000278483.3:p.Tyr58Ter
ENST00000528004.5:c.174T>A	ENSP00000433815.1:p.Tyr58Ter
ENST00000530208.1:n.249T>A
ENST00000531485.5:n.236+3910T>A
ENST00000532270.5:n.513T>A
ENST00000533986.5:c.174T>A	ENSP00000432699.1:p.Tyr58Ter
ENST00000618164.1:c.-24T>A	ENSP00000482151.1:n.-24T>A
NM_016401.3:c.174T>A	NP_057485.2:p.Tyr58Ter
NR_024596.1:n.249T>A
NR_024597.1:n.268+3910T>A
NR_024598.1:n.268+3910T>A
XM_011545097.1:c.57T>A	XP_011543399.1:p.Tyr19Ter
XR_949963.1:n.397T>A
NM_001322404.1:c.174T>A	NP_001309333.1:p.Tyr58Ter
NM_001322407.1:c.57T>A	NP_001309336.1:p.Tyr19Ter
NM_001322409.1:c.57T>A	NP_001309338.1:p.Tyr19Ter
NR_136324.1:n.396T>A
XM_017017914.2:c.174T>A	XP_016873403.1:p.Tyr58Ter
XM_017017915.1:c.57T>A	XP_016873404.1:p.Tyr19Ter
XR_001747904.2:n.383T>A
XR_949963.3:n.383T>A
NM_016401.4:c.174T>A MANE Select	NP_057485.2:p.Tyr58Ter
NM_001322404.2:c.174T>A	NP_001309333.1:p.Tyr58Ter
NM_001322407.2:c.57T>A	NP_001309336.1:p.Tyr19Ter
NM_001322409.2:c.57T>A	NP_001309338.1:p.Tyr19Ter
NR_024597.2:n.239+3910T>A
NR_024598.2:n.239+3910T>A
NR_136324.2:n.383T>A