Canonical Allele Identifier: CA2062472565

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595124C= , CM000674.2:g.109595124C=	GRCh38
NC_000012.11:g.110032929C= , CM000674.1:g.110032929C=	GRCh37
NC_000012.10:g.108517312C=	NCBI36
NG_007702.1:g.26430C= , LRG_156:g.26430C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.139C=	ENSP00000439134.1:p.His47=
ENST00000546277.6:c.982C=	ENSP00000438153.2:p.His328=
ENST00000636529.2:n.621C=
ENST00000697195.1:c.*746C=	ENSP00000513181.1:n.*746C=
ENST00000697196.1:c.*155C=	ENSP00000513182.1:n.*155C=
ENST00000697197.1:n.3011C=
ENST00000697198.1:n.1366C=
ENST00000228510.8:c.982C= MANE Select	ENSP00000228510.3:p.His328=
ENST00000636529.1:c.607C=
ENST00000636996.1:c.830C=
ENST00000228510.7:c.982C=	ENSP00000228510.3:p.His328=
ENST00000392727.7:c.826C=	ENSP00000376487.3:p.His276=
ENST00000447878.6:c.*429C=	ENSP00000415555.2:n.*429C=
ENST00000537237.5:c.*655C=	ENSP00000445382.1:n.*655C=
ENST00000539575.4:c.982C=	ENSP00000443551.2:p.His328=
ENST00000539696.5:c.139C=	ENSP00000439134.1:p.His47=
ENST00000540353.1:n.3215C=
ENST00000625889.2:c.826C=	ENSP00000486846.1:p.His276=
ENST00000629016.2:c.*429C=	ENSP00000486804.1:n.*429C=
NM_000431.3:c.982C=	NP_000422.1:p.His328=
NM_001114185.2:c.982C=	NP_001107657.1:p.His328=
NM_001301182.1:c.826C=	NP_001288111.1:p.His276=
XM_011538372.1:c.982C=	XP_011536674.1:p.His328=
XM_017019313.2:c.826C=	XP_016874802.1:p.His276=
XM_017019314.1:c.982C=	XP_016874803.1:p.His328=
NM_000431.4:c.982C= MANE Select	NP_000422.1:p.His328=
NM_001114185.3:c.982C=	NP_001107657.1:p.His328=
NM_001301182.2:c.826C=	NP_001288111.1:p.His276=