Canonical Allele Identifier: CA1296787254

Gene: MBD5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148502439G= , CM000664.2:g.148502439G=	GRCh38
NC_000002.11:g.149260008G= , CM000664.1:g.149260008G=	GRCh37
NC_000002.10:g.148976478G=	NCBI36
NG_017003.1:g.486429G=
NG_017003.2:g.486429G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000628572.2:c.2896G=
ENST00000638043.2:c.4306G=	ENSP00000490728.2:p.Glu1436=
ENST00000642680.2:c.4966G= MANE Select	ENSP00000493871.2:p.Glu1656=
ENST00000404807.5:c.4966G=	ENSP00000384672.1:p.Glu1656=
ENST00000407073.5:c.4267G=	ENSP00000386049.1:p.Glu1423=
ENST00000416015.2:c.2976G=
ENST00000496893.3:n.2048G=
ENST00000628572.1:c.506G=	ENSP00000486209.1:n.506G=
ENST00000629878.2:c.3173G=	ENSP00000487089.1:p.Gly1058=
ENST00000630352.1:c.162-10431G=
NM_018328.4:c.4267G=	NP_060798.2:p.Glu1423=
XM_005263711.2:c.4966G=	XP_005263768.1:p.Glu1656=
XM_011511470.1:c.5005G=	XP_011509772.1:p.Glu1669=
XM_011511471.1:c.5005G=	XP_011509773.1:p.Glu1669=
XM_011511472.1:c.5005G=	XP_011509774.1:p.Glu1669=
XM_011511473.1:c.5005G=	XP_011509775.1:p.Glu1669=
XM_011511474.1:c.4966G=	XP_011509776.1:p.Glu1656=
XM_011511475.1:c.4306G=	XP_011509777.1:p.Glu1436=
XM_011511476.1:c.4267G=	XP_011509778.1:p.Glu1423=
XR_922967.1:n.6288G=
XM_011511470.2:c.5005G=	XP_011509772.1:p.Glu1669=
XM_011511472.2:c.5005G=	XP_011509774.1:p.Glu1669=
XM_024452987.1:c.4966G=	XP_024308755.1:p.Glu1656=
XM_024452988.1:c.5005G=	XP_024308756.1:p.Glu1669=
XM_024452989.1:c.4966G=	XP_024308757.1:p.Glu1656=
XM_024452990.1:c.4306G=	XP_024308758.1:p.Glu1436=
XR_002959318.1:n.5371G=
XR_002959319.1:n.4772G=
NM_001378120.1:c.4966G= MANE Select	NP_001365049.1:p.Glu1656=
NM_018328.5:c.4267G=	NP_060798.2:p.Glu1423=