Canonical Allele Identifier: CA234229

Gene: MBD5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148489825G>A , CM000664.2:g.148489825G>A	GRCh38
NC_000002.11:g.149247394G>A , CM000664.1:g.149247394G>A	GRCh37
NC_000002.10:g.148963864G>A	NCBI36
NG_017003.1:g.473815G>A
NG_017003.2:g.473815G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378120.1:c.4193G>A MANE Select	NP_001365049.1:p.Arg1398Gln
ENST00000642680.2:c.4193G>A MANE Select	ENSP00000493871.2:p.Arg1398Gln
NM_018328.4:c.3494G>A	NP_060798.2:p.Arg1165Gln
NM_018328.5:c.3494G>A	NP_060798.2:p.Arg1165Gln
ENST00000404807.5:c.4193G>A	ENSP00000384672.1:p.Arg1398Gln
ENST00000407073.5:c.3494G>A	ENSP00000386049.1:p.Arg1165Gln
ENST00000416015.2:c.2972+3875G>A
ENST00000496893.3:n.1275G>A
ENST00000628572.2:c.1930G>A
ENST00000629878.2:c.3169+325G>A	ENSP00000487089.1:n.3169+325G>A
ENST00000638043.2:c.3494G>A	ENSP00000490728.2:p.Arg1165Gln
XM_005263711.2:c.4193G>A	XP_005263768.1:p.Arg1398Gln
XM_011511470.1:c.4193G>A	XP_011509772.1:p.Arg1398Gln
XM_011511470.2:c.4193G>A	XP_011509772.1:p.Arg1398Gln
XM_011511471.1:c.4193G>A	XP_011509773.1:p.Arg1398Gln
XM_011511472.1:c.4193G>A	XP_011509774.1:p.Arg1398Gln
XM_011511472.2:c.4193G>A	XP_011509774.1:p.Arg1398Gln
XM_011511473.1:c.4193G>A	XP_011509775.1:p.Arg1398Gln
XM_011511474.1:c.4193G>A	XP_011509776.1:p.Arg1398Gln
XM_011511475.1:c.3494G>A	XP_011509777.1:p.Arg1165Gln
XM_011511476.1:c.3494G>A	XP_011509778.1:p.Arg1165Gln
XM_024452987.1:c.4193G>A	XP_024308755.1:p.Arg1398Gln
XM_024452988.1:c.4193G>A	XP_024308756.1:p.Arg1398Gln
XM_024452989.1:c.4193G>A	XP_024308757.1:p.Arg1398Gln
XM_024452990.1:c.3494G>A	XP_024308758.1:p.Arg1165Gln
XR_002959318.1:n.4505G>A
XR_002959319.1:n.3806G>A
XR_922967.1:n.5422G>A