Canonical Allele Identifier: CA382017733
Gene: HIKESHI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86306446C>G , CM000673.2:g.86306446C>G GRCh38
NC_000011.9:g.86017488C>G , CM000673.1:g.86017488C>G GRCh37
NC_000011.8:g.85695136C>G NCBI36
NG_046865.1:g.9236C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000278483.8:c.232C>G MANE Select ENSP00000278483.3:p.Pro78Ala
ENST00000278483.7:c.232C>G ENSP00000278483.3:p.Pro78Ala
ENST00000528004.5:c.232C>G ENSP00000433815.1:p.Pro78Ala
ENST00000530208.1:n.307C>G
ENST00000531485.5:n.236+3968C>G
ENST00000532270.5:n.571C>G
ENST00000533986.5:c.232C>G ENSP00000432699.1:p.Pro78Ala
ENST00000618164.1:c.34C>G ENSP00000482151.1:p.Pro12Ala
NM_016401.3:c.232C>G NP_057485.2:p.Pro78Ala
NR_024596.1:n.307C>G
NR_024597.1:n.268+3968C>G
NR_024598.1:n.268+3968C>G
XM_011545097.1:c.115C>G XP_011543399.1:p.Pro39Ala
XR_949963.1:n.455C>G
NM_001322404.1:c.232C>G NP_001309333.1:p.Pro78Ala
NM_001322407.1:c.115C>G NP_001309336.1:p.Pro39Ala
NM_001322409.1:c.115C>G NP_001309338.1:p.Pro39Ala
NR_136324.1:n.454C>G
XM_017017914.2:c.232C>G XP_016873403.1:p.Pro78Ala
XM_017017915.1:c.115C>G XP_016873404.1:p.Pro39Ala
XR_001747904.2:n.441C>G
XR_949963.3:n.441C>G
NM_016401.4:c.232C>G MANE Select NP_057485.2:p.Pro78Ala
NM_001322404.2:c.232C>G NP_001309333.1:p.Pro78Ala
NM_001322407.2:c.115C>G NP_001309336.1:p.Pro39Ala
NM_001322409.2:c.115C>G NP_001309338.1:p.Pro39Ala
NR_024597.2:n.239+3968C>G
NR_024598.2:n.239+3968C>G
NR_136324.2:n.441C>G