Canonical Allele Identifier: CA2574943017

Gene: HIKESHI

Linked Data

• ClinVar Variation Id: 2706965
• ClinVar RCV Id: RCV003552247

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306230T>A , CM000673.2:g.86306230T>A	GRCh38
NC_000011.9:g.86017272T>A , CM000673.1:g.86017272T>A	GRCh37
NC_000011.8:g.85694920T>A	NCBI36
NG_046865.1:g.9020T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278483.8:c.31-15T>A MANE Select	ENSP00000278483.3:n.31-15T>A
ENST00000278483.7:c.31-15T>A	ENSP00000278483.3:n.31-15T>A
ENST00000528004.5:c.31-15T>A	ENSP00000433815.1:n.31-15T>A
ENST00000530208.1:n.106-15T>A
ENST00000531485.5:n.236+3752T>A
ENST00000532270.5:n.370-15T>A
ENST00000533986.5:c.31-15T>A	ENSP00000432699.1:n.31-15T>A
NM_016401.3:c.31-15T>A	NP_057485.2:n.31-15T>A
NR_024596.1:n.106-15T>A
NR_024597.1:n.268+3752T>A
NR_024598.1:n.268+3752T>A
XM_011545097.1:c.-87-15T>A	XP_011543399.1:n.-87-15T>A
XR_949963.1:n.254-15T>A
NM_001322404.1:c.31-15T>A	NP_001309333.1:n.31-15T>A
NM_001322407.1:c.-87-15T>A	NP_001309336.1:n.-87-15T>A
NM_001322409.1:c.-87-15T>A	NP_001309338.1:n.-87-15T>A
NR_136324.1:n.253-15T>A
XM_017017914.2:c.31-15T>A	XP_016873403.1:n.31-15T>A
XM_017017915.1:c.-87-15T>A	XP_016873404.1:n.-87-15T>A
XR_001747904.2:n.240-15T>A
XR_949963.3:n.240-15T>A
NM_016401.4:c.31-15T>A MANE Select	NP_057485.2:n.31-15T>A
NM_001322404.2:c.31-15T>A	NP_001309333.1:n.31-15T>A
NM_001322407.2:c.-87-15T>A	NP_001309336.1:n.-87-15T>A
NM_001322409.2:c.-87-15T>A	NP_001309338.1:n.-87-15T>A
NR_024597.2:n.239+3752T>A
NR_024598.2:n.239+3752T>A
NR_136324.2:n.240-15T>A