Canonical Allele Identifier: CA385476144

Gene: MBD6

Linked Data - Predicted Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57524719G>A , CM000674.2:g.57524719G>A	GRCh38
NC_000012.11:g.57918502G>A , CM000674.1:g.57918502G>A	GRCh37
NC_000012.10:g.56204769G>A	NCBI36
NG_027674.1:g.799C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355673.8:c.114-1G>A MANE Select	ENSP00000347896.3:n.114-1G>A
ENST00000355673.7:c.114-1G>A	ENSP00000347896.3:n.114-1G>A
ENST00000546632.1:c.114-1G>A	ENSP00000448202.1:n.114-1G>A
ENST00000546805.5:c.114-1G>A	ENSP00000449603.1:n.114-1G>A
ENST00000548887.5:c.114-1G>A	ENSP00000448070.1:n.114-1G>A
ENST00000549042.1:c.*59G>A	ENSP00000449541.1:n.*59G>A
ENST00000549231.5:n.493G>A
ENST00000549623.1:c.-175-1G>A	ENSP00000446481.1:n.-175-1G>A
ENST00000551351.5:c.114-1G>A	ENSP00000450370.1:n.114-1G>A
ENST00000552255.5:c.114-1G>A	ENSP00000447365.1:n.114-1G>A
ENST00000552659.1:c.99-1G>A	ENSP00000446834.1:n.99-1G>A
NM_052897.3:c.114-1G>A	NP_443129.3:n.114-1G>A
XM_005268617.1:c.114-1G>A	XP_005268674.1:n.114-1G>A
XM_005268618.1:c.114-1G>A	XP_005268675.1:n.114-1G>A
XM_005268620.2:c.114-1G>A	XP_005268677.1:n.114-1G>A
XM_006719217.1:c.114-1G>A	XP_006719280.1:n.114-1G>A
XM_006719218.1:c.114-1G>A	XP_006719281.1:n.114-1G>A
XM_011537851.1:c.114-1G>A	XP_011536153.1:n.114-1G>A
XR_429073.1:n.391-1G>A
XR_429075.1:n.391-1G>A
XR_429076.1:n.391-1G>A
XR_429078.1:n.391-1G>A
XR_429079.1:n.391-1G>A
XM_005268617.2:c.114-1G>A	XP_005268674.1:n.114-1G>A
XM_005268620.3:c.114-1G>A	XP_005268677.1:n.114-1G>A
XM_011537851.3:c.114-1G>A	XP_011536153.1:n.114-1G>A
XR_001748569.2:n.374-1G>A
XR_002957286.1:n.374-1G>A
XR_429073.2:n.374-1G>A
XR_429075.2:n.374-1G>A
XR_429076.2:n.374-1G>A
XR_429078.2:n.374-1G>A
XR_429079.2:n.374-1G>A
NM_052897.4:c.114-1G>A MANE Select	NP_443129.3:n.114-1G>A