Canonical Allele Identifier: CA6779433
Gene: MVK HGNC NCBI

Linked Data

dbSNP Id: rs773869929

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109595211C>T , CM000674.2:g.109595211C>T GRCh38
NC_000012.11:g.110033016C>T , CM000674.1:g.110033016C>T GRCh37
NC_000012.10:g.108517399C>T NCBI36
NG_007702.1:g.26517C>T , LRG_156:g.26517C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.196+30C>T ENSP00000439134.1:n.196+30C>T
ENST00000546277.6:c.1039+30C>T ENSP00000438153.2:n.1039+30C>T
ENST00000636529.2:n.678+30C>T
ENST00000697195.1:c.*803+30C>T ENSP00000513181.1:n.*803+30C>T
ENST00000697196.1:c.*212+30C>T ENSP00000513182.1:n.*212+30C>T
ENST00000697197.1:n.3068+30C>T
ENST00000697198.1:n.1423+30C>T
ENST00000228510.8:c.1039+30C>T MANE Select ENSP00000228510.3:n.1039+30C>T
ENST00000636529.1:c.664+30C>T
ENST00000636996.1:c.887+30C>T
ENST00000228510.7:c.1039+30C>T ENSP00000228510.3:n.1039+30C>T
ENST00000392727.7:c.883+30C>T ENSP00000376487.3:n.883+30C>T
ENST00000447878.6:c.*486+30C>T ENSP00000415555.2:n.*486+30C>T
ENST00000537237.5:c.*712+30C>T ENSP00000445382.1:n.*712+30C>T
ENST00000539575.4:c.1039+30C>T ENSP00000443551.2:n.1039+30C>T
ENST00000539696.5:c.196+30C>T ENSP00000439134.1:n.196+30C>T
ENST00000540353.1:n.3272+30C>T
ENST00000625889.2:c.883+30C>T ENSP00000486846.1:n.883+30C>T
ENST00000629016.2:c.*486+30C>T ENSP00000486804.1:n.*486+30C>T
NM_000431.3:c.1039+30C>T NP_000422.1:n.1039+30C>T
NM_001114185.2:c.1039+30C>T NP_001107657.1:n.1039+30C>T
NM_001301182.1:c.883+30C>T NP_001288111.1:n.883+30C>T
XM_011538372.1:c.1039+30C>T XP_011536674.1:n.1039+30C>T
XM_017019313.2:c.883+30C>T XP_016874802.1:n.883+30C>T
XM_017019314.1:c.1039+30C>T XP_016874803.1:n.1039+30C>T
NM_000431.4:c.1039+30C>T MANE Select NP_000422.1:n.1039+30C>T
NM_001114185.3:c.1039+30C>T NP_001107657.1:n.1039+30C>T
NM_001301182.2:c.883+30C>T NP_001288111.1:n.883+30C>T