Canonical Allele Identifier: CA10640101

Gene: MVK

Linked Data

• ClinVar Variation Id: 307090
• ClinVar RCV Id: RCV000282519 ; RCV000374760 ; RCV000425122
• dbSNP Id: rs192335177
• gnomAD v2: 12-110011689-G-A
• gnomAD v3: 12-109573884-G-A
• gnomAD v4: 12-109573884-G-A
• MyVariant Identifiers: chr12:g.110011689G>A (hg19) ; chr12:g.109573884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573884G>A , CM000674.2:g.109573884G>A	GRCh38
NC_000012.11:g.110011689G>A , CM000674.1:g.110011689G>A	GRCh37
NC_000012.10:g.108496072G>A	NCBI36
NG_007096.1:g.4614C>T
NG_007702.1:g.5190G>A , LRG_156:g.5190G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-92+11G>A	ENSP00000439134.1:n.-92+11G>A
ENST00000546277.6:c.-15+313G>A	ENSP00000438153.2:n.-15+313G>A
ENST00000228510.8:c.-15+11G>A MANE Select	ENSP00000228510.3:n.-15+11G>A
ENST00000228510.7:c.-15+11G>A	ENSP00000228510.3:n.-15+11G>A
ENST00000392727.7:c.-15+11G>A	ENSP00000376487.3:n.-15+11G>A
ENST00000447878.6:c.-15+11G>A	ENSP00000415555.2:n.-15+11G>A
ENST00000535044.1:n.231+313G>A
ENST00000537237.5:c.-15+11G>A	ENSP00000445382.1:n.-15+11G>A
ENST00000539335.5:c.-6+313G>A	ENSP00000440379.1:n.-6+313G>A
ENST00000539696.5:c.-92+11G>A	ENSP00000439134.1:n.-92+11G>A
ENST00000545774.5:c.-15+11G>A	ENSP00000443978.1:n.-15+11G>A
ENST00000546277.5:c.-15+313G>A	ENSP00000438153.1:n.-15+313G>A
NM_000431.3:c.-15+11G>A	NP_000422.1:n.-15+11G>A
NM_001114185.2:c.-6+11G>A	NP_001107657.1:n.-6+11G>A
NM_001301182.1:c.-15+11G>A	NP_001288111.1:n.-15+11G>A
XM_011538372.1:c.-15+313G>A	XP_011536674.1:n.-15+313G>A
XM_017019313.2:c.-15+313G>A	XP_016874802.1:n.-15+313G>A
XM_024448982.1:c.-15+313G>A	XP_024304750.1:n.-15+313G>A
NM_000431.4:c.-15+11G>A MANE Select	NP_000422.1:n.-15+11G>A
NM_001114185.3:c.-6+11G>A	NP_001107657.1:n.-6+11G>A
NM_001301182.2:c.-15+11G>A	NP_001288111.1:n.-15+11G>A