Canonical Allele Identifier: CA683452114

Gene: MVK

Linked Data

• dbSNP Id: rs1373130616
• gnomAD v3: 12-109586163-T-G
• gnomAD v4: 12-109586163-T-G
• MyVariant Identifiers: chr12:g.110023968T>G (hg19) ; chr12:g.109586163T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586163T>G , CM000674.2:g.109586163T>G	GRCh38
NC_000012.11:g.110023968T>G , CM000674.1:g.110023968T>G	GRCh37
NC_000012.10:g.108508351T>G	NCBI36
NG_007702.1:g.17469T>G , LRG_156:g.17469T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4683T>G	ENSP00000439134.1:n.-91-4683T>G
ENST00000546277.6:c.631+38T>G	ENSP00000438153.2:n.631+38T>G
ENST00000636529.2:n.182+38T>G
ENST00000697195.1:c.*395+38T>G	ENSP00000513181.1:n.*395+38T>G
ENST00000697196.1:c.631+38T>G	ENSP00000513182.1:n.631+38T>G
ENST00000228510.8:c.631+38T>G MANE Select	ENSP00000228510.3:n.631+38T>G
ENST00000636529.1:c.168+38T>G
ENST00000636996.1:c.479+38T>G
ENST00000228510.7:c.631+38T>G	ENSP00000228510.3:n.631+38T>G
ENST00000392727.7:c.475+38T>G	ENSP00000376487.3:n.475+38T>G
ENST00000447878.6:c.*78+38T>G	ENSP00000415555.2:n.*78+38T>G
ENST00000537237.5:c.*395+38T>G	ENSP00000445382.1:n.*395+38T>G
ENST00000539575.4:c.631+38T>G	ENSP00000443551.2:n.631+38T>G
ENST00000539696.5:c.-91-4683T>G	ENSP00000439134.1:n.-91-4683T>G
ENST00000545516.1:n.176+38T>G
ENST00000545774.5:c.*78+38T>G	ENSP00000443978.1:n.*78+38T>G
ENST00000625889.2:c.475+38T>G	ENSP00000486846.1:n.475+38T>G
ENST00000629016.2:c.*78+38T>G	ENSP00000486804.1:n.*78+38T>G
NM_000431.3:c.631+38T>G	NP_000422.1:n.631+38T>G
NM_001114185.2:c.631+38T>G	NP_001107657.1:n.631+38T>G
NM_001301182.1:c.475+38T>G	NP_001288111.1:n.475+38T>G
XM_011538372.1:c.631+38T>G	XP_011536674.1:n.631+38T>G
XM_017019313.2:c.475+38T>G	XP_016874802.1:n.475+38T>G
XM_017019314.1:c.631+38T>G	XP_016874803.1:n.631+38T>G
XM_024448982.1:c.631+38T>G	XP_024304750.1:n.631+38T>G
NM_000431.4:c.631+38T>G MANE Select	NP_000422.1:n.631+38T>G
NM_001114185.3:c.631+38T>G	NP_001107657.1:n.631+38T>G
NM_001301182.2:c.475+38T>G	NP_001288111.1:n.475+38T>G