Canonical Allele Identifier: CA1296787266
Gene: MBD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.148502464C= , CM000664.2:g.148502464C= GRCh38
NC_000002.11:g.149260033C= , CM000664.1:g.149260033C= GRCh37
NC_000002.10:g.148976503C= NCBI36
NG_017003.1:g.486454C=
NG_017003.2:g.486454C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000628572.2:c.2921C=
ENST00000637835.1:n.22C=
ENST00000638043.2:c.4331C= ENSP00000490728.2:p.Thr1444=
ENST00000642680.2:c.4991C= MANE Select ENSP00000493871.2:p.Thr1664=
ENST00000404807.5:c.4991C= ENSP00000384672.1:p.Thr1664=
ENST00000407073.5:c.4292C= ENSP00000386049.1:p.Thr1431=
ENST00000416015.2:c.3001C=
ENST00000496893.3:n.2073C=
ENST00000628572.1:c.531C= ENSP00000486209.1:n.531C=
ENST00000629878.2:c.3198C= ENSP00000487089.1:p.Asn1066=
ENST00000630352.1:c.162-10406C=
NM_018328.4:c.4292C= NP_060798.2:p.Thr1431=
XM_005263711.2:c.4991C= XP_005263768.1:p.Thr1664=
XM_011511470.1:c.5030C= XP_011509772.1:p.Thr1677=
XM_011511471.1:c.5030C= XP_011509773.1:p.Thr1677=
XM_011511472.1:c.5030C= XP_011509774.1:p.Thr1677=
XM_011511473.1:c.5030C= XP_011509775.1:p.Thr1677=
XM_011511474.1:c.4991C= XP_011509776.1:p.Thr1664=
XM_011511475.1:c.4331C= XP_011509777.1:p.Thr1444=
XM_011511476.1:c.4292C= XP_011509778.1:p.Thr1431=
XR_922967.1:n.6313C=
XM_011511470.2:c.5030C= XP_011509772.1:p.Thr1677=
XM_011511472.2:c.5030C= XP_011509774.1:p.Thr1677=
XM_024452987.1:c.4991C= XP_024308755.1:p.Thr1664=
XM_024452988.1:c.5030C= XP_024308756.1:p.Thr1677=
XM_024452989.1:c.4991C= XP_024308757.1:p.Thr1664=
XM_024452990.1:c.4331C= XP_024308758.1:p.Thr1444=
XR_002959318.1:n.5396C=
XR_002959319.1:n.4797C=
NM_001378120.1:c.4991C= MANE Select NP_001365049.1:p.Thr1664=
NM_018328.5:c.4292C= NP_060798.2:p.Thr1431=