Canonical Allele Identifier: CA2620812591

Gene: MVK

Linked Data

• gnomAD v4: 12-109574663-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109574663C>A , CM000674.2:g.109574663C>A	GRCh38
NC_000012.11:g.110012468C>A , CM000674.1:g.110012468C>A	GRCh37
NC_000012.10:g.108496851C>A	NCBI36
NG_007096.1:g.3835G>T
NG_007702.1:g.5969C>A , LRG_156:g.5969C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-92+790C>A	ENSP00000439134.1:n.-92+790C>A
ENST00000546277.6:c.-14-146C>A	ENSP00000438153.2:n.-14-146C>A
ENST00000697195.1:c.-160C>A	ENSP00000513181.1:n.-160C>A
ENST00000228510.8:c.-14-146C>A MANE Select	ENSP00000228510.3:n.-14-146C>A
ENST00000228510.7:c.-14-146C>A	ENSP00000228510.3:n.-14-146C>A
ENST00000392727.7:c.-14-146C>A	ENSP00000376487.3:n.-14-146C>A
ENST00000447878.6:c.-14-146C>A	ENSP00000415555.2:n.-14-146C>A
ENST00000535044.1:n.232-146C>A
ENST00000537237.5:c.-14-146C>A	ENSP00000445382.1:n.-14-146C>A
ENST00000539335.5:c.-5-155C>A	ENSP00000440379.1:n.-5-155C>A
ENST00000539696.5:c.-92+790C>A	ENSP00000439134.1:n.-92+790C>A
ENST00000545774.5:c.-14-146C>A	ENSP00000443978.1:n.-14-146C>A
ENST00000546277.5:c.-14-146C>A	ENSP00000438153.1:n.-14-146C>A
NM_000431.3:c.-14-146C>A	NP_000422.1:n.-14-146C>A
NM_001114185.2:c.-5-155C>A	NP_001107657.1:n.-5-155C>A
NM_001301182.1:c.-14-146C>A	NP_001288111.1:n.-14-146C>A
XM_011538372.1:c.-14-146C>A	XP_011536674.1:n.-14-146C>A
XM_017019313.2:c.-14-146C>A	XP_016874802.1:n.-14-146C>A
XM_017019314.1:c.-27C>A	XP_016874803.1:n.-27C>A
XM_024448982.1:c.-14-146C>A	XP_024304750.1:n.-14-146C>A
NM_000431.4:c.-14-146C>A MANE Select	NP_000422.1:n.-14-146C>A
NM_001114185.3:c.-5-155C>A	NP_001107657.1:n.-5-155C>A
NM_001301182.2:c.-14-146C>A	NP_001288111.1:n.-14-146C>A