Canonical Allele Identifier: CA2499221423

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573934G>A , CM000674.2:g.109573934G>A	GRCh38
NC_000012.11:g.110011739G>A , CM000674.1:g.110011739G>A	GRCh37
NC_000012.10:g.108496122G>A	NCBI36
NG_007096.1:g.4564C>T
NG_007702.1:g.5240G>A , LRG_156:g.5240G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000431.4:c.-15+61G>A MANE Select	NP_000422.1:n.-15+61G>A
ENST00000228510.8:c.-15+61G>A MANE Select	ENSP00000228510.3:n.-15+61G>A
NM_000431.3:c.-15+61G>A	NP_000422.1:n.-15+61G>A
NM_001114185.2:c.-6+61G>A	NP_001107657.1:n.-6+61G>A
NM_001114185.3:c.-6+61G>A	NP_001107657.1:n.-6+61G>A
NM_001301182.1:c.-15+61G>A	NP_001288111.1:n.-15+61G>A
NM_001301182.2:c.-15+61G>A	NP_001288111.1:n.-15+61G>A
ENST00000228510.7:c.-15+61G>A	ENSP00000228510.3:n.-15+61G>A
ENST00000392727.7:c.-15+61G>A	ENSP00000376487.3:n.-15+61G>A
ENST00000447878.6:c.-15+61G>A	ENSP00000415555.2:n.-15+61G>A
ENST00000535044.1:n.231+363G>A
ENST00000537237.5:c.-15+61G>A	ENSP00000445382.1:n.-15+61G>A
ENST00000539335.5:c.-6+363G>A	ENSP00000440379.1:n.-6+363G>A
ENST00000539696.5:c.-92+61G>A	ENSP00000439134.1:n.-92+61G>A
ENST00000539696.6:c.-92+61G>A	ENSP00000439134.1:n.-92+61G>A
ENST00000545774.5:c.-15+61G>A	ENSP00000443978.1:n.-15+61G>A
ENST00000546277.5:c.-15+363G>A	ENSP00000438153.1:n.-15+363G>A
ENST00000546277.6:c.-15+363G>A	ENSP00000438153.2:n.-15+363G>A
ENST00000697195.1:c.-889G>A	ENSP00000513181.1:n.-889G>A
XM_011538372.1:c.-15+363G>A	XP_011536674.1:n.-15+363G>A
XM_017019313.2:c.-15+363G>A	XP_016874802.1:n.-15+363G>A
XM_024448982.1:c.-15+363G>A	XP_024304750.1:n.-15+363G>A