Canonical Allele Identifier: CA683445340

Gene: MVK MMAB

Linked Data

• dbSNP Id: rs1466922571
• gnomAD v3: 12-109573535-G-A
• gnomAD v4: 12-109573535-G-A
• MyVariant Identifiers: chr12:g.110011340G>A (hg19) ; chr12:g.109573535G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573535G>A , CM000674.2:g.109573535G>A	GRCh38
NC_000012.11:g.110011340G>A , CM000674.1:g.110011340G>A	GRCh37
NC_000012.10:g.108495723G>A	NCBI36
NG_007096.1:g.4963C>T
NG_007702.1:g.4841G>A , LRG_156:g.4841G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546277.6:c.-51G>A (MVK)	ENSP00000438153.2:n.-51G>A
ENST00000535044.1:n.195G>A (MVK)
ENST00000537236.2:c.-55C>T (MMAB)	ENSP00000483818.1:n.-55C>T
ENST00000539335.5:c.-42G>A (MVK)	ENSP00000440379.1:n.-42G>A
ENST00000545712.6:c.-55C>T (MMAB)	ENSP00000445920.1:n.-55C>T
ENST00000546277.5:c.-51G>A (MVK)	ENSP00000438153.1:n.-51G>A
NM_052845.3:c.-55C>T (MMAB)	NP_443077.1:n.-55C>T
NR_038118.1:n.19C>T (MMAB)
XM_011538372.1:c.-51G>A (MVK)	XP_011536674.1:n.-51G>A
XM_017019313.2:c.-51G>A (MVK)	XP_016874802.1:n.-51G>A
XM_024448961.1:c.-55C>T (MMAB)	XP_024304729.1:n.-55C>T
XM_024448982.1:c.-51G>A (MVK)	XP_024304750.1:n.-51G>A