Canonical Allele Identifier: CA354143

Gene: HIKESHI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306374G>C , CM000673.2:g.86306374G>C	GRCh38
NC_000011.9:g.86017416G>C , CM000673.1:g.86017416G>C	GRCh37
NC_000011.8:g.85695064G>C	NCBI36
NG_046865.1:g.9164G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016401.4:c.160G>C MANE Select	NP_057485.2:p.Val54Leu
ENST00000278483.8:c.160G>C MANE Select	ENSP00000278483.3:p.Val54Leu
NM_001322404.1:c.160G>C	NP_001309333.1:p.Val54Leu
NM_001322404.2:c.160G>C	NP_001309333.1:p.Val54Leu
NM_001322407.1:c.43G>C	NP_001309336.1:p.Val15Leu
NM_001322407.2:c.43G>C	NP_001309336.1:p.Val15Leu
NM_001322409.1:c.43G>C	NP_001309338.1:p.Val15Leu
NM_001322409.2:c.43G>C	NP_001309338.1:p.Val15Leu
NM_016401.3:c.160G>C	NP_057485.2:p.Val54Leu
NR_024596.1:n.235G>C
NR_024597.1:n.268+3896G>C
NR_024597.2:n.239+3896G>C
NR_024598.1:n.268+3896G>C
NR_024598.2:n.239+3896G>C
NR_136324.1:n.382G>C
NR_136324.2:n.369G>C
ENST00000278483.7:c.160G>C	ENSP00000278483.3:p.Val54Leu
ENST00000528004.5:c.160G>C	ENSP00000433815.1:p.Val54Leu
ENST00000530208.1:n.235G>C
ENST00000531485.5:n.236+3896G>C
ENST00000532270.5:n.499G>C
ENST00000533986.5:c.160G>C	ENSP00000432699.1:p.Val54Leu
ENST00000618164.1:c.-38G>C	ENSP00000482151.1:n.-38G>C
XM_011545097.1:c.43G>C	XP_011543399.1:p.Val15Leu
XM_017017914.2:c.160G>C	XP_016873403.1:p.Val54Leu
XM_017017915.1:c.43G>C	XP_016873404.1:p.Val15Leu
XR_001747904.2:n.369G>C
XR_949963.1:n.383G>C
XR_949963.3:n.369G>C