Canonical Allele Identifier: CA346158590

Gene: KHK

Linked Data

• MyVariant Identifiers: chr2:g.27315296G>C (hg19) ; chr2:g.27092428G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27092428G>C , CM000664.2:g.27092428G>C	GRCh38
NC_000002.11:g.27315296G>C , CM000664.1:g.27315296G>C	GRCh37
NC_000002.10:g.27168800G>C	NCBI36
NG_012199.1:g.10686G>C
NG_012199.2:g.10686G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260599.11:c.189G>C	ENSP00000260599.6:p.Met63Ile
ENST00000429697.2:c.189G>C	ENSP00000404741.2:p.Met63Ile
ENST00000260598.10:c.189G>C MANE Select	ENSP00000260598.5:p.Met63Ile
ENST00000260598.9:c.189G>C	ENSP00000260598.5:p.Met63Ile
ENST00000260599.10:c.189G>C	ENSP00000260599.6:p.Met63Ile
ENST00000429697.1:c.189G>C	ENSP00000404741.1:p.Met63Ile
ENST00000490823.5:n.537G>C
NM_000221.2:c.189G>C	NP_000212.1:p.Met63Ile
NM_006488.2:c.189G>C	NP_006479.1:p.Met63Ile
XM_005264294.2:c.189G>C	XP_005264351.1:p.Met63Ile
XM_005264296.2:c.189G>C	XP_005264353.1:p.Met63Ile
XM_005264298.2:c.93-4301G>C	XP_005264355.1:n.93-4301G>C
XM_006712008.2:c.189G>C	XP_006712071.1:p.Met63Ile
XM_006712009.2:c.189G>C	XP_006712072.1:p.Met63Ile
XM_006712010.2:c.189G>C	XP_006712073.1:p.Met63Ile
XM_006712011.2:c.189G>C	XP_006712074.1:p.Met63Ile
XM_006712012.2:c.189G>C	XP_006712075.1:p.Met63Ile
XM_006712013.2:c.189G>C	XP_006712076.1:p.Met63Ile
XM_006712014.2:c.93-4301G>C	XP_006712077.1:n.93-4301G>C
XM_005264294.4:c.189G>C	XP_005264351.1:p.Met63Ile
XM_005264296.4:c.189G>C	XP_005264353.1:p.Met63Ile
XM_005264298.4:c.93-4301G>C	XP_005264355.1:n.93-4301G>C
XM_006712008.4:c.189G>C	XP_006712071.1:p.Met63Ile
XM_006712009.4:c.189G>C	XP_006712072.1:p.Met63Ile
XM_006712010.4:c.189G>C	XP_006712073.1:p.Met63Ile
XM_006712011.4:c.189G>C	XP_006712074.1:p.Met63Ile
XM_006712012.4:c.189G>C	XP_006712075.1:p.Met63Ile
XM_006712013.4:c.189G>C	XP_006712076.1:p.Met63Ile
XM_006712014.4:c.93-4301G>C	XP_006712077.1:n.93-4301G>C
XM_017004060.2:c.189G>C	XP_016859549.1:p.Met63Ile
XM_017004061.2:c.189G>C	XP_016859550.1:p.Met63Ile
NM_006488.3:c.189G>C MANE Select	NP_006479.1:p.Met63Ile
NM_000221.3:c.189G>C	NP_000212.1:p.Met63Ile