Canonical Allele Identifier: CA10640132
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 307103
dbSNP Id: rs138924471

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109596652T>G , CM000674.2:g.109596652T>G GRCh38
NC_000012.11:g.110034457T>G , CM000674.1:g.110034457T>G GRCh37
NC_000012.10:g.108518840T>G NCBI36
NG_007702.1:g.27958T>G , LRG_156:g.27958T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.*75T>G ENSP00000439134.1:n.*75T>G
ENST00000546277.6:c.*75T>G ENSP00000438153.2:n.*75T>G
ENST00000636529.2:n.905T>G
ENST00000697195.1:c.*1030T>G ENSP00000513181.1:n.*1030T>G
ENST00000697196.1:c.*439T>G ENSP00000513182.1:n.*439T>G
ENST00000697197.1:n.3295T>G
ENST00000697198.1:n.1650T>G
ENST00000228510.8:c.*75T>G MANE Select ENSP00000228510.3:n.*75T>G
ENST00000636529.1:c.891T>G
ENST00000636996.1:c.1114T>G
ENST00000228510.7:c.*75T>G ENSP00000228510.3:n.*75T>G
ENST00000392727.7:c.*75T>G ENSP00000376487.3:n.*75T>G
ENST00000447878.6:c.*713T>G ENSP00000415555.2:n.*713T>G
ENST00000539575.4:c.*75T>G ENSP00000443551.2:n.*75T>G
ENST00000539696.5:c.*75T>G ENSP00000439134.1:n.*75T>G
ENST00000540353.1:n.3499T>G
ENST00000625889.2:c.*75T>G ENSP00000486846.1:n.*75T>G
ENST00000629016.2:c.*713T>G ENSP00000486804.1:n.*713T>G
NM_000431.3:c.*75T>G NP_000422.1:n.*75T>G
NM_001114185.2:c.*75T>G NP_001107657.1:n.*75T>G
NM_001301182.1:c.*75T>G NP_001288111.1:n.*75T>G
XM_011538372.1:c.*75T>G XP_011536674.1:n.*75T>G
XM_017019313.2:c.*75T>G XP_016874802.1:n.*75T>G
XM_017019314.1:c.*75T>G XP_016874803.1:n.*75T>G
NM_000431.4:c.*75T>G MANE Select NP_000422.1:n.*75T>G
NM_001114185.3:c.*75T>G NP_001107657.1:n.*75T>G
NM_001301182.2:c.*75T>G NP_001288111.1:n.*75T>G