Canonical Allele Identifier: CA358800

Gene: MVK MMAB

Linked Data

• ClinVar Variation Id: 225187
• ClinVar RCV Id: RCV000210846
• dbSNP Id: rs869320655
• gnomAD v2: 12-110011284-A-G
• gnomAD v4: 12-109573479-A-G
• MyVariant Identifiers: chr12:g.110011284A>G (hg19) ; chr12:g.109573479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573479A>G , CM000674.2:g.109573479A>G	GRCh38
NC_000012.11:g.110011284A>G , CM000674.1:g.110011284A>G	GRCh37
NC_000012.10:g.108495667A>G	NCBI36
NG_007096.1:g.5019T>C
NG_007702.1:g.4785A>G , LRG_156:g.4785A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000546277.6:c.-107A>G (MVK)	ENSP00000438153.2:n.-107A>G
ENST00000545712.7:c.2T>C (MMAB) MANE Select	ENSP00000445920.1:p.Met1Thr
ENST00000420167.6:c.2T>C (MMAB)	ENSP00000416136.2:p.Met1Thr
ENST00000503497.7:c.2T>C (MMAB)	ENSP00000474881.1:p.Met1Thr
ENST00000535044.1:n.139A>G (MVK)
ENST00000536760.1:n.5T>C (MMAB)
ENST00000537236.2:c.2T>C (MMAB)	ENSP00000483818.1:p.Met1Thr
ENST00000537496.5:c.2T>C (MMAB)	ENSP00000444793.1:p.Met1Thr
ENST00000539335.5:c.-98A>G (MVK)	ENSP00000440379.1:n.-98A>G
ENST00000540016.5:c.2T>C (MMAB)	ENSP00000474582.1:p.Met1Thr
ENST00000541763.6:c.2T>C (MMAB)	ENSP00000474981.1:p.Met1Thr
ENST00000542390.5:n.29T>C (MMAB)
ENST00000544051.5:c.2T>C (MMAB)	ENSP00000438079.1:p.Met1Thr
ENST00000545712.6:c.2T>C (MMAB)	ENSP00000445920.1:p.Met1Thr
ENST00000546277.5:c.-107A>G (MVK)	ENSP00000438153.1:n.-107A>G
NM_052845.3:c.2T>C (MMAB)	NP_443077.1:p.Met1Thr
NR_038118.1:n.75T>C (MMAB)
XM_011538372.1:c.-107A>G (MVK)	XP_011536674.1:n.-107A>G
XM_024448961.1:c.2T>C (MMAB)	XP_024304729.1:p.Met1Thr
XM_024448982.1:c.-107A>G (MVK)	XP_024304750.1:n.-107A>G
NM_052845.4:c.2T>C (MMAB) MANE Select	NP_443077.1:p.Met1Thr
NR_038118.2:n.26T>C (MMAB)