Canonical Allele Identifier: CA2620818902

Gene: MVK

Linked Data

• gnomAD v4: 12-109596421-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596421C>A , CM000674.2:g.109596421C>A	GRCh38
NC_000012.11:g.110034226C>A , CM000674.1:g.110034226C>A	GRCh37
NC_000012.10:g.108518609C>A	NCBI36
NG_007702.1:g.27727C>A , LRG_156:g.27727C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.197-5C>A	ENSP00000439134.1:n.197-5C>A
ENST00000546277.6:c.1040-5C>A	ENSP00000438153.2:n.1040-5C>A
ENST00000636529.2:n.679-5C>A
ENST00000697195.1:c.*804-5C>A	ENSP00000513181.1:n.*804-5C>A
ENST00000697196.1:c.*213-5C>A	ENSP00000513182.1:n.*213-5C>A
ENST00000697197.1:n.3069-5C>A
ENST00000697198.1:n.1424-5C>A
ENST00000228510.8:c.1040-5C>A MANE Select	ENSP00000228510.3:n.1040-5C>A
ENST00000636529.1:c.665-5C>A
ENST00000636996.1:c.888-5C>A
ENST00000228510.7:c.1040-5C>A	ENSP00000228510.3:n.1040-5C>A
ENST00000392727.7:c.884-5C>A	ENSP00000376487.3:n.884-5C>A
ENST00000447878.6:c.*487-5C>A	ENSP00000415555.2:n.*487-5C>A
ENST00000537237.5:c.*713-5C>A	ENSP00000445382.1:n.*713-5C>A
ENST00000539575.4:c.1040-5C>A	ENSP00000443551.2:n.1040-5C>A
ENST00000539696.5:c.197-5C>A	ENSP00000439134.1:n.197-5C>A
ENST00000540353.1:n.3273-5C>A
ENST00000625889.2:c.884-5C>A	ENSP00000486846.1:n.884-5C>A
ENST00000629016.2:c.*487-5C>A	ENSP00000486804.1:n.*487-5C>A
NM_000431.3:c.1040-5C>A	NP_000422.1:n.1040-5C>A
NM_001114185.2:c.1040-5C>A	NP_001107657.1:n.1040-5C>A
NM_001301182.1:c.884-5C>A	NP_001288111.1:n.884-5C>A
XM_011538372.1:c.1040-5C>A	XP_011536674.1:n.1040-5C>A
XM_017019313.2:c.884-5C>A	XP_016874802.1:n.884-5C>A
XM_017019314.1:c.1040-5C>A	XP_016874803.1:n.1040-5C>A
NM_000431.4:c.1040-5C>A MANE Select	NP_000422.1:n.1040-5C>A
NM_001114185.3:c.1040-5C>A	NP_001107657.1:n.1040-5C>A
NM_001301182.2:c.884-5C>A	NP_001288111.1:n.884-5C>A