Canonical Allele Identifier: CA149786
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 97569
dbSNP Id: rs104895324

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.296A>G ENSP00000439134.1:p.His99Arg
ENST00000546277.6:c.1139A>G ENSP00000438153.2:p.His380Arg
ENST00000636529.2:n.778A>G
ENST00000697195.1:c.*903A>G ENSP00000513181.1:n.*903A>G
ENST00000697196.1:c.*312A>G ENSP00000513182.1:n.*312A>G
ENST00000697197.1:n.3168A>G
ENST00000697198.1:n.1523A>G
ENST00000228510.8:c.1139A>G MANE Select ENSP00000228510.3:p.His380Arg
ENST00000636529.1:c.764A>G
ENST00000636996.1:c.987A>G
ENST00000228510.7:c.1139A>G ENSP00000228510.3:p.His380Arg
ENST00000392727.7:c.983A>G ENSP00000376487.3:p.His328Arg
ENST00000447878.6:c.*586A>G ENSP00000415555.2:n.*586A>G
ENST00000537237.5:c.*812A>G ENSP00000445382.1:n.*812A>G
ENST00000539575.4:c.1139A>G ENSP00000443551.2:p.His380Arg
ENST00000539696.5:c.296A>G ENSP00000439134.1:p.His99Arg
ENST00000540353.1:n.3372A>G
ENST00000625889.2:c.983A>G ENSP00000486846.1:p.His328Arg
ENST00000629016.2:c.*586A>G ENSP00000486804.1:n.*586A>G
NM_000431.3:c.1139A>G NP_000422.1:p.His380Arg
NM_001114185.2:c.1139A>G NP_001107657.1:p.His380Arg
NM_001301182.1:c.983A>G NP_001288111.1:p.His328Arg
XM_011538372.1:c.1139A>G XP_011536674.1:p.His380Arg
XM_017019313.2:c.983A>G XP_016874802.1:p.His328Arg
XM_017019314.1:c.1139A>G XP_016874803.1:p.His380Arg
NM_000431.4:c.1139A>G MANE Select NP_000422.1:p.His380Arg
NM_001114185.3:c.1139A>G NP_001107657.1:p.His380Arg
NM_001301182.2:c.983A>G NP_001288111.1:p.His328Arg