Canonical Allele Identifier: CA2615436827

Gene: HIKESHI

Linked Data

• gnomAD v4: 11-86306543-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306543A>T , CM000673.2:g.86306543A>T	GRCh38
NC_000011.9:g.86017585A>T , CM000673.1:g.86017585A>T	GRCh37
NC_000011.8:g.85695233A>T	NCBI36
NG_046865.1:g.9333A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278483.8:c.268+61A>T MANE Select	ENSP00000278483.3:n.268+61A>T
ENST00000278483.7:c.268+61A>T	ENSP00000278483.3:n.268+61A>T
ENST00000528004.5:c.268+61A>T	ENSP00000433815.1:n.268+61A>T
ENST00000530208.1:n.343+61A>T
ENST00000531485.5:n.236+4065A>T
ENST00000532270.5:n.607+61A>T
ENST00000533986.5:c.268+61A>T	ENSP00000432699.1:n.268+61A>T
ENST00000618164.1:c.70+61A>T	ENSP00000482151.1:n.70+61A>T
NM_016401.3:c.268+61A>T	NP_057485.2:n.268+61A>T
NR_024596.1:n.343+61A>T
NR_024597.1:n.268+4065A>T
NR_024598.1:n.268+4065A>T
XM_011545097.1:c.151+61A>T	XP_011543399.1:n.151+61A>T
XR_949963.1:n.491+61A>T
NM_001322404.1:c.268+61A>T	NP_001309333.1:n.268+61A>T
NM_001322407.1:c.151+61A>T	NP_001309336.1:n.151+61A>T
NM_001322409.1:c.151+61A>T	NP_001309338.1:n.151+61A>T
NR_136324.1:n.490+61A>T
XM_017017914.2:c.268+61A>T	XP_016873403.1:n.268+61A>T
XM_017017915.1:c.151+61A>T	XP_016873404.1:n.151+61A>T
XR_001747904.2:n.477+61A>T
XR_949963.3:n.477+61A>T
NM_016401.4:c.268+61A>T MANE Select	NP_057485.2:n.268+61A>T
NM_001322404.2:c.268+61A>T	NP_001309333.1:n.268+61A>T
NM_001322407.2:c.151+61A>T	NP_001309336.1:n.151+61A>T
NM_001322409.2:c.151+61A>T	NP_001309338.1:n.151+61A>T
NR_024597.2:n.239+4065A>T
NR_024598.2:n.239+4065A>T
NR_136324.2:n.477+61A>T