Canonical Allele Identifier: CA1296787239
Gene: MBD5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.148502403G= , CM000664.2:g.148502403G= GRCh38
NC_000002.11:g.149259972G= , CM000664.1:g.149259972G= GRCh37
NC_000002.10:g.148976442G= NCBI36
NG_017003.1:g.486393G=
NG_017003.2:g.486393G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000628572.2:c.2893-33G=
ENST00000638043.2:c.4270G= ENSP00000490728.2:p.Val1424=
ENST00000642680.2:c.4963-33G= MANE Select ENSP00000493871.2:n.4963-33G=
ENST00000404807.5:c.4963-33G= ENSP00000384672.1:n.4963-33G=
ENST00000407073.5:c.4264-33G= ENSP00000386049.1:n.4264-33G=
ENST00000416015.2:c.2973-33G=
ENST00000496893.3:n.2045-33G=
ENST00000628572.1:c.503-33G= ENSP00000486209.1:n.503-33G=
ENST00000629878.2:c.3170-33G= ENSP00000487089.1:n.3170-33G=
ENST00000630352.1:c.162-10467G=
NM_018328.4:c.4264-33G= NP_060798.2:n.4264-33G=
XM_005263711.2:c.4963-33G= XP_005263768.1:n.4963-33G=
XM_011511470.1:c.4969G= XP_011509772.1:p.Val1657=
XM_011511471.1:c.4969G= XP_011509773.1:p.Val1657=
XM_011511472.1:c.4969G= XP_011509774.1:p.Val1657=
XM_011511473.1:c.4969G= XP_011509775.1:p.Val1657=
XM_011511474.1:c.4963-33G= XP_011509776.1:n.4963-33G=
XM_011511475.1:c.4270G= XP_011509777.1:p.Val1424=
XM_011511476.1:c.4264-33G= XP_011509778.1:n.4264-33G=
XR_922967.1:n.6285-33G=
XM_011511470.2:c.4969G= XP_011509772.1:p.Val1657=
XM_011511472.2:c.4969G= XP_011509774.1:p.Val1657=
XM_024452987.1:c.4963-33G= XP_024308755.1:n.4963-33G=
XM_024452988.1:c.4969G= XP_024308756.1:p.Val1657=
XM_024452989.1:c.4963-33G= XP_024308757.1:n.4963-33G=
XM_024452990.1:c.4270G= XP_024308758.1:p.Val1424=
XR_002959318.1:n.5368-33G=
XR_002959319.1:n.4769-33G=
NM_001378120.1:c.4963-33G= MANE Select NP_001365049.1:n.4963-33G=
NM_018328.5:c.4264-33G= NP_060798.2:n.4264-33G=