Canonical Allele Identifier: CA382017760
Gene: HIKESHI HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86306459T>A , CM000673.2:g.86306459T>A GRCh38
NC_000011.9:g.86017501T>A , CM000673.1:g.86017501T>A GRCh37
NC_000011.8:g.85695149T>A NCBI36
NG_046865.1:g.9249T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000278483.8:c.245T>A MANE Select ENSP00000278483.3:p.Phe82Tyr
ENST00000278483.7:c.245T>A ENSP00000278483.3:p.Phe82Tyr
ENST00000528004.5:c.245T>A ENSP00000433815.1:p.Phe82Tyr
ENST00000530208.1:n.320T>A
ENST00000531485.5:n.236+3981T>A
ENST00000532270.5:n.584T>A
ENST00000533986.5:c.245T>A ENSP00000432699.1:p.Phe82Tyr
ENST00000618164.1:c.47T>A ENSP00000482151.1:p.Phe16Tyr
NM_016401.3:c.245T>A NP_057485.2:p.Phe82Tyr
NR_024596.1:n.320T>A
NR_024597.1:n.268+3981T>A
NR_024598.1:n.268+3981T>A
XM_011545097.1:c.128T>A XP_011543399.1:p.Phe43Tyr
XR_949963.1:n.468T>A
NM_001322404.1:c.245T>A NP_001309333.1:p.Phe82Tyr
NM_001322407.1:c.128T>A NP_001309336.1:p.Phe43Tyr
NM_001322409.1:c.128T>A NP_001309338.1:p.Phe43Tyr
NR_136324.1:n.467T>A
XM_017017914.2:c.245T>A XP_016873403.1:p.Phe82Tyr
XM_017017915.1:c.128T>A XP_016873404.1:p.Phe43Tyr
XR_001747904.2:n.454T>A
XR_949963.3:n.454T>A
NM_016401.4:c.245T>A MANE Select NP_057485.2:p.Phe82Tyr
NM_001322404.2:c.245T>A NP_001309333.1:p.Phe82Tyr
NM_001322407.2:c.128T>A NP_001309336.1:p.Phe43Tyr
NM_001322409.2:c.128T>A NP_001309338.1:p.Phe43Tyr
NR_024597.2:n.239+3981T>A
NR_024598.2:n.239+3981T>A
NR_136324.2:n.454T>A