Canonical Allele Identifier: CA683445332

Gene: MVK MMAB

Linked Data

• dbSNP Id: rs770130176
• gnomAD v4: 12-109573530-C-A
• MyVariant Identifiers: chr12:g.110011335C>A (hg19) ; chr12:g.109573530C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573530C>A , CM000674.2:g.109573530C>A	GRCh38
NC_000012.11:g.110011335C>A , CM000674.1:g.110011335C>A	GRCh37
NC_000012.10:g.108495718C>A	NCBI36
NG_007096.1:g.4968G>T
NG_007702.1:g.4836C>A , LRG_156:g.4836C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546277.6:c.-56C>A (MVK)	ENSP00000438153.2:n.-56C>A
ENST00000535044.1:n.190C>A (MVK)
ENST00000537236.2:c.-50G>T (MMAB)	ENSP00000483818.1:n.-50G>T
ENST00000539335.5:c.-47C>A (MVK)	ENSP00000440379.1:n.-47C>A
ENST00000545712.6:c.-50G>T (MMAB)	ENSP00000445920.1:n.-50G>T
ENST00000546277.5:c.-56C>A (MVK)	ENSP00000438153.1:n.-56C>A
NM_052845.3:c.-50G>T (MMAB)	NP_443077.1:n.-50G>T
NR_038118.1:n.24G>T (MMAB)
XM_011538372.1:c.-56C>A (MVK)	XP_011536674.1:n.-56C>A
XM_017019313.2:c.-56C>A (MVK)	XP_016874802.1:n.-56C>A
XM_024448961.1:c.-50G>T (MMAB)	XP_024304729.1:n.-50G>T
XM_024448982.1:c.-56C>A (MVK)	XP_024304750.1:n.-56C>A