Canonical Allele Identifier: CA16603176
Gene: HIKESHI HGNC NCBI

Linked Data

ClinVar Variation Id: 376818
ClinVar RCV Id: RCV000437251
dbSNP Id: rs1057520064
MyVariant Identifiers: chr11:g.86017286G>T (hg19) chr11:g.86306244G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86306244G>T , CM000673.2:g.86306244G>T GRCh38
NC_000011.9:g.86017286G>T , CM000673.1:g.86017286G>T GRCh37
NC_000011.8:g.85694934G>T NCBI36
NG_046865.1:g.9034G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000278483.8:c.31-1G>T MANE Select ENSP00000278483.3:n.31-1G>T
ENST00000278483.7:c.31-1G>T ENSP00000278483.3:n.31-1G>T
ENST00000528004.5:c.31-1G>T ENSP00000433815.1:n.31-1G>T
ENST00000530208.1:n.106-1G>T
ENST00000531485.5:n.236+3766G>T
ENST00000532270.5:n.370-1G>T
ENST00000533986.5:c.31-1G>T ENSP00000432699.1:n.31-1G>T
NM_016401.3:c.31-1G>T NP_057485.2:n.31-1G>T
NR_024596.1:n.106-1G>T
NR_024597.1:n.268+3766G>T
NR_024598.1:n.268+3766G>T
XM_011545097.1:c.-87-1G>T XP_011543399.1:n.-87-1G>T
XR_949963.1:n.254-1G>T
NM_001322404.1:c.31-1G>T NP_001309333.1:n.31-1G>T
NM_001322407.1:c.-87-1G>T NP_001309336.1:n.-87-1G>T
NM_001322409.1:c.-87-1G>T NP_001309338.1:n.-87-1G>T
NR_136324.1:n.253-1G>T
XM_017017914.2:c.31-1G>T XP_016873403.1:n.31-1G>T
XM_017017915.1:c.-87-1G>T XP_016873404.1:n.-87-1G>T
XR_001747904.2:n.240-1G>T
XR_949963.3:n.240-1G>T
NM_016401.4:c.31-1G>T MANE Select NP_057485.2:n.31-1G>T
NM_001322404.2:c.31-1G>T NP_001309333.1:n.31-1G>T
NM_001322407.2:c.-87-1G>T NP_001309336.1:n.-87-1G>T
NM_001322409.2:c.-87-1G>T NP_001309338.1:n.-87-1G>T
NR_024597.2:n.239+3766G>T
NR_024598.2:n.239+3766G>T
NR_136324.2:n.240-1G>T
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