Canonical Allele Identifier: CA149889
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 97617
ClinVar RCV Id: RCV000083869
dbSNP Id: rs104895330

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109574897C>T , CM000674.2:g.109574897C>T GRCh38
NC_000012.11:g.110012702C>T , CM000674.1:g.110012702C>T GRCh37
NC_000012.10:g.108497085C>T NCBI36
NG_007096.1:g.3601G>A
NG_007702.1:g.6203C>T , LRG_156:g.6203C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.-92+1024C>T ENSP00000439134.1:n.-92+1024C>T
ENST00000546277.6:c.75C>T ENSP00000438153.2:p.Gly25=
ENST00000636529.2:n.75C>T
ENST00000697195.1:c.75C>T ENSP00000513181.1:p.Gly25=
ENST00000697196.1:c.75C>T ENSP00000513182.1:p.Gly25=
ENST00000228510.8:c.75C>T MANE Select ENSP00000228510.3:p.Gly25=
ENST00000636529.1:c.61C>T
ENST00000636996.1:c.68C>T
ENST00000639206.1:c.75C>T ENSP00000492778.1:p.Gly25=
ENST00000228510.7:c.75C>T ENSP00000228510.3:p.Gly25=
ENST00000392727.7:c.75C>T ENSP00000376487.3:p.Gly25=
ENST00000447878.6:c.75C>T ENSP00000415555.2:p.Gly25=
ENST00000535044.1:n.320C>T
ENST00000537237.5:c.75C>T ENSP00000445382.1:p.Gly25=
ENST00000539335.5:c.75C>T ENSP00000440379.1:p.Gly25=
ENST00000539575.4:c.75C>T ENSP00000443551.2:p.Gly25=
ENST00000539696.5:c.-92+1024C>T ENSP00000439134.1:n.-92+1024C>T
ENST00000545774.5:c.75C>T ENSP00000443978.1:p.Gly25=
ENST00000546277.5:c.75C>T ENSP00000438153.1:p.Gly25=
ENST00000625889.2:c.75C>T ENSP00000486846.1:p.Gly25=
ENST00000629016.2:c.75C>T ENSP00000486804.1:p.Gly25=
NM_000431.3:c.75C>T NP_000422.1:p.Gly25=
NM_001114185.2:c.75C>T NP_001107657.1:p.Gly25=
NM_001301182.1:c.75C>T NP_001288111.1:p.Gly25=
XM_011538372.1:c.75C>T XP_011536674.1:p.Gly25=
XM_017019313.2:c.75C>T XP_016874802.1:p.Gly25=
XM_017019314.1:c.75C>T XP_016874803.1:p.Gly25=
XM_024448982.1:c.75C>T XP_024304750.1:p.Gly25=
NM_000431.4:c.75C>T MANE Select NP_000422.1:p.Gly25=
NM_001114185.3:c.75C>T NP_001107657.1:p.Gly25=
NM_001301182.2:c.75C>T NP_001288111.1:p.Gly25=