Canonical Allele Identifier: CA382016053

Gene: HIKESHI

Linked Data

• gnomAD v4: 11-86306245-G-T
• MyVariant Identifiers: chr11:g.86017287G>T (hg19) ; chr11:g.86306245G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306245G>T , CM000673.2:g.86306245G>T	GRCh38
NC_000011.9:g.86017287G>T , CM000673.1:g.86017287G>T	GRCh37
NC_000011.8:g.85694935G>T	NCBI36
NG_046865.1:g.9035G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000278483.8:c.31G>T MANE Select	ENSP00000278483.3:p.Val11Leu
ENST00000278483.7:c.31G>T	ENSP00000278483.3:p.Val11Leu
ENST00000528004.5:c.31G>T	ENSP00000433815.1:p.Val11Leu
ENST00000530208.1:n.106G>T
ENST00000531485.5:n.236+3767G>T
ENST00000532270.5:n.370G>T
ENST00000533986.5:c.31G>T	ENSP00000432699.1:p.Val11Leu
NM_016401.3:c.31G>T	NP_057485.2:p.Val11Leu
NR_024596.1:n.106G>T
NR_024597.1:n.268+3767G>T
NR_024598.1:n.268+3767G>T
XM_011545097.1:c.-87G>T	XP_011543399.1:n.-87G>T
XR_949963.1:n.254G>T
NM_001322404.1:c.31G>T	NP_001309333.1:p.Val11Leu
NM_001322407.1:c.-87G>T	NP_001309336.1:n.-87G>T
NM_001322409.1:c.-87G>T	NP_001309338.1:n.-87G>T
NR_136324.1:n.253G>T
XM_017017914.2:c.31G>T	XP_016873403.1:p.Val11Leu
XM_017017915.1:c.-87G>T	XP_016873404.1:n.-87G>T
XR_001747904.2:n.240G>T
XR_949963.3:n.240G>T
NM_016401.4:c.31G>T MANE Select	NP_057485.2:p.Val11Leu
NM_001322404.2:c.31G>T	NP_001309333.1:p.Val11Leu
NM_001322407.2:c.-87G>T	NP_001309336.1:n.-87G>T
NM_001322409.2:c.-87G>T	NP_001309338.1:n.-87G>T
NR_024597.2:n.239+3767G>T
NR_024598.2:n.239+3767G>T
NR_136324.2:n.240G>T