Canonical Allele Identifier: CA382017739
Gene: HIKESHI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86306449A>G , CM000673.2:g.86306449A>G GRCh38
NC_000011.9:g.86017491A>G , CM000673.1:g.86017491A>G GRCh37
NC_000011.8:g.85695139A>G NCBI36
NG_046865.1:g.9239A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000278483.8:c.235A>G MANE Select ENSP00000278483.3:p.Ser79Gly
ENST00000278483.7:c.235A>G ENSP00000278483.3:p.Ser79Gly
ENST00000528004.5:c.235A>G ENSP00000433815.1:p.Ser79Gly
ENST00000530208.1:n.310A>G
ENST00000531485.5:n.236+3971A>G
ENST00000532270.5:n.574A>G
ENST00000533986.5:c.235A>G ENSP00000432699.1:p.Ser79Gly
ENST00000618164.1:c.37A>G ENSP00000482151.1:p.Ser13Gly
NM_016401.3:c.235A>G NP_057485.2:p.Ser79Gly
NR_024596.1:n.310A>G
NR_024597.1:n.268+3971A>G
NR_024598.1:n.268+3971A>G
XM_011545097.1:c.118A>G XP_011543399.1:p.Ser40Gly
XR_949963.1:n.458A>G
NM_001322404.1:c.235A>G NP_001309333.1:p.Ser79Gly
NM_001322407.1:c.118A>G NP_001309336.1:p.Ser40Gly
NM_001322409.1:c.118A>G NP_001309338.1:p.Ser40Gly
NR_136324.1:n.457A>G
XM_017017914.2:c.235A>G XP_016873403.1:p.Ser79Gly
XM_017017915.1:c.118A>G XP_016873404.1:p.Ser40Gly
XR_001747904.2:n.444A>G
XR_949963.3:n.444A>G
NM_016401.4:c.235A>G MANE Select NP_057485.2:p.Ser79Gly
NM_001322404.2:c.235A>G NP_001309333.1:p.Ser79Gly
NM_001322407.2:c.118A>G NP_001309336.1:p.Ser40Gly
NM_001322409.2:c.118A>G NP_001309338.1:p.Ser40Gly
NR_024597.2:n.239+3971A>G
NR_024598.2:n.239+3971A>G
NR_136324.2:n.444A>G