Canonical Allele Identifier: CA1337695156
Gene: MLPH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237527489G= , CM000664.2:g.237527489G= GRCh38
NC_000002.11:g.238436132G= , CM000664.1:g.238436132G= GRCh37
NC_000002.10:g.238100871G= NCBI36
NG_007286.1:g.45203G= , LRG_83:g.45203G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264605.8:c.993G= MANE Select ENSP00000264605.3:p.Arg331=
ENST00000264605.7:c.993G= ENSP00000264605.3:p.Arg331=
ENST00000338530.8:c.993G= ENSP00000341845.4:p.Arg331=
ENST00000409373.5:c.873G= ENSP00000386780.1:p.Arg291=
ENST00000410032.5:c.675+7460G= ENSP00000386338.1:n.675+7460G=
ENST00000415753.5:c.55G=
ENST00000436965.5:c.239G=
ENST00000437893.5:c.300+1684G= ENSP00000412438.1:n.300+1684G=
ENST00000464123.5:n.1058G=
ENST00000468178.5:n.1204G=
ENST00000478712.5:n.672G=
ENST00000482528.1:n.245G=
ENST00000485956.1:n.369G=
ENST00000494110.5:n.673G=
ENST00000495439.5:n.1370G=
NM_001042467.2:c.993G= NP_001035932.1:p.Arg331=
NM_001281473.1:c.873G= NP_001268402.1:p.Arg291=
NM_001281474.1:c.675+7460G= NP_001268403.1:n.675+7460G=
NM_024101.6:c.993G= NP_077006.1:p.Arg331=
NR_104019.1:n.1236G=
XM_006712737.1:c.873G= XP_006712800.1:p.Arg291=
XM_006712739.1:c.993G= XP_006712802.1:p.Arg331=
XM_006712740.1:c.873G= XP_006712803.1:p.Arg291=
XM_011511811.1:c.993G= XP_011510113.1:p.Arg331=
XM_011511812.1:c.558G= XP_011510114.1:p.Arg186=
XR_923025.1:n.1204G=
XM_017004893.1:c.993G= XP_016860382.1:p.Arg331=
XM_017004894.2:c.993G= XP_016860383.1:p.Arg331=
NM_024101.7:c.993G= MANE Select NP_077006.1:p.Arg331=
NM_001042467.3:c.993G= NP_001035932.1:p.Arg331=
NM_001281473.2:c.873G= NP_001268402.1:p.Arg291=
NM_001281474.2:c.675+7460G= NP_001268403.1:n.675+7460G=
NR_104019.2:n.1204G=