Canonical Allele Identifier: CA382017248

Gene: HIKESHI

Linked Data

• gnomAD v4: 11-86306363-T-C
• MyVariant Identifiers: chr11:g.86017405T>C (hg19) ; chr11:g.86306363T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.86306363T>C , CM000673.2:g.86306363T>C	GRCh38
NC_000011.9:g.86017405T>C , CM000673.1:g.86017405T>C	GRCh37
NC_000011.8:g.85695053T>C	NCBI36
NG_046865.1:g.9153T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278483.8:c.149T>C MANE Select	ENSP00000278483.3:p.Met50Thr
ENST00000278483.7:c.149T>C	ENSP00000278483.3:p.Met50Thr
ENST00000528004.5:c.149T>C	ENSP00000433815.1:p.Met50Thr
ENST00000530208.1:n.224T>C
ENST00000531485.5:n.236+3885T>C
ENST00000532270.5:n.488T>C
ENST00000533986.5:c.149T>C	ENSP00000432699.1:p.Met50Thr
ENST00000618164.1:c.-49T>C	ENSP00000482151.1:n.-49T>C
NM_016401.3:c.149T>C	NP_057485.2:p.Met50Thr
NR_024596.1:n.224T>C
NR_024597.1:n.268+3885T>C
NR_024598.1:n.268+3885T>C
XM_011545097.1:c.32T>C	XP_011543399.1:p.Met11Thr
XR_949963.1:n.372T>C
NM_001322404.1:c.149T>C	NP_001309333.1:p.Met50Thr
NM_001322407.1:c.32T>C	NP_001309336.1:p.Met11Thr
NM_001322409.1:c.32T>C	NP_001309338.1:p.Met11Thr
NR_136324.1:n.371T>C
XM_017017914.2:c.149T>C	XP_016873403.1:p.Met50Thr
XM_017017915.1:c.32T>C	XP_016873404.1:p.Met11Thr
XR_001747904.2:n.358T>C
XR_949963.3:n.358T>C
NM_016401.4:c.149T>C MANE Select	NP_057485.2:p.Met50Thr
NM_001322404.2:c.149T>C	NP_001309333.1:p.Met50Thr
NM_001322407.2:c.32T>C	NP_001309336.1:p.Met11Thr
NM_001322409.2:c.32T>C	NP_001309338.1:p.Met11Thr
NR_024597.2:n.239+3885T>C
NR_024598.2:n.239+3885T>C
NR_136324.2:n.358T>C