Canonical Allele Identifier: CA243452148

Gene: MVK

Linked Data

• dbSNP Id: rs553910397
• gnomAD v3: 12-109574764-T-G
• gnomAD v4: 12-109574764-T-G
• MyVariant Identifiers: chr12:g.110012569T>G (hg19) ; chr12:g.109574764T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109574764T>G , CM000674.2:g.109574764T>G	GRCh38
NC_000012.11:g.110012569T>G , CM000674.1:g.110012569T>G	GRCh37
NC_000012.10:g.108496952T>G	NCBI36
NG_007096.1:g.3734A>C
NG_007702.1:g.6070T>G , LRG_156:g.6070T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-92+891T>G	ENSP00000439134.1:n.-92+891T>G
ENST00000546277.6:c.-14-45T>G	ENSP00000438153.2:n.-14-45T>G
ENST00000697195.1:c.-59T>G	ENSP00000513181.1:n.-59T>G
ENST00000228510.8:c.-14-45T>G MANE Select	ENSP00000228510.3:n.-14-45T>G
ENST00000228510.7:c.-14-45T>G	ENSP00000228510.3:n.-14-45T>G
ENST00000392727.7:c.-14-45T>G	ENSP00000376487.3:n.-14-45T>G
ENST00000447878.6:c.-14-45T>G	ENSP00000415555.2:n.-14-45T>G
ENST00000535044.1:n.232-45T>G
ENST00000537237.5:c.-14-45T>G	ENSP00000445382.1:n.-14-45T>G
ENST00000539335.5:c.-5-54T>G	ENSP00000440379.1:n.-5-54T>G
ENST00000539696.5:c.-92+891T>G	ENSP00000439134.1:n.-92+891T>G
ENST00000545774.5:c.-14-45T>G	ENSP00000443978.1:n.-14-45T>G
ENST00000546277.5:c.-14-45T>G	ENSP00000438153.1:n.-14-45T>G
NM_000431.3:c.-14-45T>G	NP_000422.1:n.-14-45T>G
NM_001114185.2:c.-5-54T>G	NP_001107657.1:n.-5-54T>G
NM_001301182.1:c.-14-45T>G	NP_001288111.1:n.-14-45T>G
XM_011538372.1:c.-14-45T>G	XP_011536674.1:n.-14-45T>G
XM_017019313.2:c.-14-45T>G	XP_016874802.1:n.-14-45T>G
XM_017019314.1:c.-14-45T>G	XP_016874803.1:n.-14-45T>G
XM_024448982.1:c.-14-45T>G	XP_024304750.1:n.-14-45T>G
NM_000431.4:c.-14-45T>G MANE Select	NP_000422.1:n.-14-45T>G
NM_001114185.3:c.-5-54T>G	NP_001107657.1:n.-5-54T>G
NM_001301182.2:c.-14-45T>G	NP_001288111.1:n.-14-45T>G