Canonical Allele Identifier: CA1337694515
Gene: MLPH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237526002T= , CM000664.2:g.237526002T= GRCh38
NC_000002.11:g.238434645T= , CM000664.1:g.238434645T= GRCh37
NC_000002.10:g.238099384T= NCBI36
NG_007286.1:g.43716T= , LRG_83:g.43716T=

Transcript Alleles

HGVS Amino-acid change
ENST00000264605.8:c.880+197T= MANE Select ENSP00000264605.3:n.880+197T=
ENST00000264605.7:c.880+197T= ENSP00000264605.3:n.880+197T=
ENST00000338530.8:c.880+197T= ENSP00000341845.4:n.880+197T=
ENST00000409373.5:c.760+197T= ENSP00000386780.1:n.760+197T=
ENST00000410032.5:c.675+5973T= ENSP00000386338.1:n.675+5973T=
ENST00000436965.5:c.78+197T=
ENST00000437893.5:c.300+197T= ENSP00000412438.1:n.300+197T=
ENST00000464123.5:n.945+197T=
ENST00000468178.5:n.1091+197T=
ENST00000478712.5:n.559+197T=
ENST00000482528.1:n.132+197T=
ENST00000485956.1:n.256+197T=
ENST00000494110.5:n.560+197T=
ENST00000495439.5:n.1257+197T=
NM_001042467.2:c.880+197T= NP_001035932.1:n.880+197T=
NM_001281473.1:c.760+197T= NP_001268402.1:n.760+197T=
NM_001281474.1:c.675+5973T= NP_001268403.1:n.675+5973T=
NM_024101.6:c.880+197T= NP_077006.1:n.880+197T=
NR_104019.1:n.1123+197T=
XM_006712737.1:c.760+197T= XP_006712800.1:n.760+197T=
XM_006712739.1:c.880+197T= XP_006712802.1:n.880+197T=
XM_006712740.1:c.760+197T= XP_006712803.1:n.760+197T=
XM_011511811.1:c.880+197T= XP_011510113.1:n.880+197T=
XM_011511812.1:c.445+197T= XP_011510114.1:n.445+197T=
XR_923025.1:n.1091+197T=
XM_017004893.1:c.880+197T= XP_016860382.1:n.880+197T=
XM_017004894.2:c.880+197T= XP_016860383.1:n.880+197T=
NM_024101.7:c.880+197T= MANE Select NP_077006.1:n.880+197T=
NM_001042467.3:c.880+197T= NP_001035932.1:n.880+197T=
NM_001281473.2:c.760+197T= NP_001268402.1:n.760+197T=
NM_001281474.2:c.675+5973T= NP_001268403.1:n.675+5973T=
NR_104019.2:n.1091+197T=