Canonical Allele Identifier: CA348729026

Gene: MBD5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.148489984A>C , CM000664.2:g.148489984A>C	GRCh38
NC_000002.11:g.149247553A>C , CM000664.1:g.149247553A>C	GRCh37
NC_000002.10:g.148964023A>C	NCBI36
NG_017003.1:g.473974A>C
NG_017003.2:g.473974A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001378120.1:c.4352A>C MANE Select	NP_001365049.1:p.His1451Pro
ENST00000642680.2:c.4352A>C MANE Select	ENSP00000493871.2:p.His1451Pro
NM_018328.4:c.3653A>C	NP_060798.2:p.His1218Pro
NM_018328.5:c.3653A>C	NP_060798.2:p.His1218Pro
ENST00000404807.5:c.4352A>C	ENSP00000384672.1:p.His1451Pro
ENST00000407073.5:c.3653A>C	ENSP00000386049.1:p.His1218Pro
ENST00000416015.2:c.2972+4034A>C
ENST00000496893.3:n.1434A>C
ENST00000628572.2:c.2089A>C
ENST00000629878.2:c.3169+484A>C	ENSP00000487089.1:n.3169+484A>C
ENST00000638043.2:c.3653A>C	ENSP00000490728.2:p.His1218Pro
XM_005263711.2:c.4352A>C	XP_005263768.1:p.His1451Pro
XM_011511470.1:c.4352A>C	XP_011509772.1:p.His1451Pro
XM_011511470.2:c.4352A>C	XP_011509772.1:p.His1451Pro
XM_011511471.1:c.4352A>C	XP_011509773.1:p.His1451Pro
XM_011511472.1:c.4352A>C	XP_011509774.1:p.His1451Pro
XM_011511472.2:c.4352A>C	XP_011509774.1:p.His1451Pro
XM_011511473.1:c.4352A>C	XP_011509775.1:p.His1451Pro
XM_011511474.1:c.4352A>C	XP_011509776.1:p.His1451Pro
XM_011511475.1:c.3653A>C	XP_011509777.1:p.His1218Pro
XM_011511476.1:c.3653A>C	XP_011509778.1:p.His1218Pro
XM_024452987.1:c.4352A>C	XP_024308755.1:p.His1451Pro
XM_024452988.1:c.4352A>C	XP_024308756.1:p.His1451Pro
XM_024452989.1:c.4352A>C	XP_024308757.1:p.His1451Pro
XM_024452990.1:c.3653A>C	XP_024308758.1:p.His1218Pro
XR_002959318.1:n.4664A>C
XR_002959319.1:n.3965A>C
XR_922967.1:n.5581A>C