Canonical Allele Identifier: CA476143735
Gene: HIKESHI HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.86017298T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.86306256T>C , CM000673.2:g.86306256T>C GRCh38
NC_000011.9:g.86017298T>C , CM000673.1:g.86017298T>C GRCh37
NC_000011.8:g.85694946T>C NCBI36
NG_046865.1:g.9046T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000278483.8:c.42T>C MANE Select ENSP00000278483.3:p.Ala14=
ENST00000278483.7:c.42T>C ENSP00000278483.3:p.Ala14=
ENST00000528004.5:c.42T>C ENSP00000433815.1:p.Ala14=
ENST00000530208.1:n.117T>C
ENST00000531485.5:n.236+3778T>C
ENST00000532270.5:n.381T>C
ENST00000533986.5:c.42T>C ENSP00000432699.1:p.Ala14=
NM_016401.3:c.42T>C NP_057485.2:p.Ala14=
NR_024596.1:n.117T>C
NR_024597.1:n.268+3778T>C
NR_024598.1:n.268+3778T>C
XM_011545097.1:c.-76T>C XP_011543399.1:n.-76T>C
XR_949963.1:n.265T>C
NM_001322404.1:c.42T>C NP_001309333.1:p.Ala14=
NM_001322407.1:c.-76T>C NP_001309336.1:n.-76T>C
NM_001322409.1:c.-76T>C NP_001309338.1:n.-76T>C
NR_136324.1:n.264T>C
XM_017017914.2:c.42T>C XP_016873403.1:p.Ala14=
XM_017017915.1:c.-76T>C XP_016873404.1:n.-76T>C
XR_001747904.2:n.251T>C
XR_949963.3:n.251T>C
NM_016401.4:c.42T>C MANE Select NP_057485.2:p.Ala14=
NM_001322404.2:c.42T>C NP_001309333.1:p.Ala14=
NM_001322407.2:c.-76T>C NP_001309336.1:n.-76T>C
NM_001322409.2:c.-76T>C NP_001309338.1:n.-76T>C
NR_024597.2:n.239+3778T>C
NR_024598.2:n.239+3778T>C
NR_136324.2:n.251T>C