Canonical Allele Identifier: CA382017078

Gene: HIKESHI

Linked Data

• gnomAD v4: 11-86306341-A-C
• MyVariant Identifiers: chr11:g.86017383A>C (hg19) ; chr11:g.86306341A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306341A>C , CM000673.2:g.86306341A>C	GRCh38
NC_000011.9:g.86017383A>C , CM000673.1:g.86017383A>C	GRCh37
NC_000011.8:g.85695031A>C	NCBI36
NG_046865.1:g.9131A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278483.8:c.127A>C MANE Select	ENSP00000278483.3:p.Thr43Pro
ENST00000278483.7:c.127A>C	ENSP00000278483.3:p.Thr43Pro
ENST00000528004.5:c.127A>C	ENSP00000433815.1:p.Thr43Pro
ENST00000530208.1:n.202A>C
ENST00000531485.5:n.236+3863A>C
ENST00000532270.5:n.466A>C
ENST00000533986.5:c.127A>C	ENSP00000432699.1:p.Thr43Pro
ENST00000618164.1:c.-71A>C	ENSP00000482151.1:n.-71A>C
NM_016401.3:c.127A>C	NP_057485.2:p.Thr43Pro
NR_024596.1:n.202A>C
NR_024597.1:n.268+3863A>C
NR_024598.1:n.268+3863A>C
XM_011545097.1:c.10A>C	XP_011543399.1:p.Thr4Pro
XR_949963.1:n.350A>C
NM_001322404.1:c.127A>C	NP_001309333.1:p.Thr43Pro
NM_001322407.1:c.10A>C	NP_001309336.1:p.Thr4Pro
NM_001322409.1:c.10A>C	NP_001309338.1:p.Thr4Pro
NR_136324.1:n.349A>C
XM_017017914.2:c.127A>C	XP_016873403.1:p.Thr43Pro
XM_017017915.1:c.10A>C	XP_016873404.1:p.Thr4Pro
XR_001747904.2:n.336A>C
XR_949963.3:n.336A>C
NM_016401.4:c.127A>C MANE Select	NP_057485.2:p.Thr43Pro
NM_001322404.2:c.127A>C	NP_001309333.1:p.Thr43Pro
NM_001322407.2:c.10A>C	NP_001309336.1:p.Thr4Pro
NM_001322409.2:c.10A>C	NP_001309338.1:p.Thr4Pro
NR_024597.2:n.239+3863A>C
NR_024598.2:n.239+3863A>C
NR_136324.2:n.336A>C