Canonical Allele Identifier: CA386650794

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110032930A>G (hg19) ; chr12:g.109595125A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595125A>G , CM000674.2:g.109595125A>G	GRCh38
NC_000012.11:g.110032930A>G , CM000674.1:g.110032930A>G	GRCh37
NC_000012.10:g.108517313A>G	NCBI36
NG_007702.1:g.26431A>G , LRG_156:g.26431A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.140A>G	ENSP00000439134.1:p.His47Arg
ENST00000546277.6:c.983A>G	ENSP00000438153.2:p.His328Arg
ENST00000636529.2:n.622A>G
ENST00000697195.1:c.*747A>G	ENSP00000513181.1:n.*747A>G
ENST00000697196.1:c.*156A>G	ENSP00000513182.1:n.*156A>G
ENST00000697197.1:n.3012A>G
ENST00000697198.1:n.1367A>G
ENST00000228510.8:c.983A>G MANE Select	ENSP00000228510.3:p.His328Arg
ENST00000636529.1:c.608A>G
ENST00000636996.1:c.831A>G
ENST00000228510.7:c.983A>G	ENSP00000228510.3:p.His328Arg
ENST00000392727.7:c.827A>G	ENSP00000376487.3:p.His276Arg
ENST00000447878.6:c.*430A>G	ENSP00000415555.2:n.*430A>G
ENST00000537237.5:c.*656A>G	ENSP00000445382.1:n.*656A>G
ENST00000539575.4:c.983A>G	ENSP00000443551.2:p.His328Arg
ENST00000539696.5:c.140A>G	ENSP00000439134.1:p.His47Arg
ENST00000540353.1:n.3216A>G
ENST00000625889.2:c.827A>G	ENSP00000486846.1:p.His276Arg
ENST00000629016.2:c.*430A>G	ENSP00000486804.1:n.*430A>G
NM_000431.3:c.983A>G	NP_000422.1:p.His328Arg
NM_001114185.2:c.983A>G	NP_001107657.1:p.His328Arg
NM_001301182.1:c.827A>G	NP_001288111.1:p.His276Arg
XM_011538372.1:c.983A>G	XP_011536674.1:p.His328Arg
XM_017019313.2:c.827A>G	XP_016874802.1:p.His276Arg
XM_017019314.1:c.983A>G	XP_016874803.1:p.His328Arg
NM_000431.4:c.983A>G MANE Select	NP_000422.1:p.His328Arg
NM_001114185.3:c.983A>G	NP_001107657.1:p.His328Arg
NM_001301182.2:c.827A>G	NP_001288111.1:p.His276Arg