Canonical Allele Identifier: CA2062473121

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596525A= , CM000674.2:g.109596525A=	GRCh38
NC_000012.11:g.110034330A= , CM000674.1:g.110034330A=	GRCh37
NC_000012.10:g.108518713A=	NCBI36
NG_007702.1:g.27831A= , LRG_156:g.27831A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.296A=	ENSP00000439134.1:p.His99=
ENST00000546277.6:c.1139A=	ENSP00000438153.2:p.His380=
ENST00000636529.2:n.778A=
ENST00000697195.1:c.*903A=	ENSP00000513181.1:n.*903A=
ENST00000697196.1:c.*312A=	ENSP00000513182.1:n.*312A=
ENST00000697197.1:n.3168A=
ENST00000697198.1:n.1523A=
ENST00000228510.8:c.1139A= MANE Select	ENSP00000228510.3:p.His380=
ENST00000636529.1:c.764A=
ENST00000636996.1:c.987A=
ENST00000228510.7:c.1139A=	ENSP00000228510.3:p.His380=
ENST00000392727.7:c.983A=	ENSP00000376487.3:p.His328=
ENST00000447878.6:c.*586A=	ENSP00000415555.2:n.*586A=
ENST00000537237.5:c.*812A=	ENSP00000445382.1:n.*812A=
ENST00000539575.4:c.1139A=	ENSP00000443551.2:p.His380=
ENST00000539696.5:c.296A=	ENSP00000439134.1:p.His99=
ENST00000540353.1:n.3372A=
ENST00000625889.2:c.983A=	ENSP00000486846.1:p.His328=
ENST00000629016.2:c.*586A=	ENSP00000486804.1:n.*586A=
NM_000431.3:c.1139A=	NP_000422.1:p.His380=
NM_001114185.2:c.1139A=	NP_001107657.1:p.His380=
NM_001301182.1:c.983A=	NP_001288111.1:p.His328=
XM_011538372.1:c.1139A=	XP_011536674.1:p.His380=
XM_017019313.2:c.983A=	XP_016874802.1:p.His328=
XM_017019314.1:c.1139A=	XP_016874803.1:p.His380=
NM_000431.4:c.1139A= MANE Select	NP_000422.1:p.His380=
NM_001114185.3:c.1139A=	NP_001107657.1:p.His380=
NM_001301182.2:c.983A=	NP_001288111.1:p.His328=