Canonical Allele Identifier: CA2663804102

Gene: MLPH

Linked Data

• gnomAD v4: 2-237527563-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.237527563A>T , CM000664.2:g.237527563A>T	GRCh38
NC_000002.11:g.238436206A>T , CM000664.1:g.238436206A>T	GRCh37
NC_000002.10:g.238100945A>T	NCBI36
NG_007286.1:g.45277A>T , LRG_83:g.45277A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264605.8:c.1020+47A>T MANE Select	ENSP00000264605.3:n.1020+47A>T
ENST00000264605.7:c.1020+47A>T	ENSP00000264605.3:n.1020+47A>T
ENST00000338530.8:c.1020+47A>T	ENSP00000341845.4:n.1020+47A>T
ENST00000409373.5:c.900+47A>T	ENSP00000386780.1:n.900+47A>T
ENST00000410032.5:c.675+7534A>T	ENSP00000386338.1:n.675+7534A>T
ENST00000415753.5:c.82+47A>T
ENST00000436965.5:c.266+47A>T
ENST00000437893.5:c.300+1758A>T	ENSP00000412438.1:n.300+1758A>T
ENST00000464123.5:n.1085+47A>T
ENST00000468178.5:n.1231+47A>T
ENST00000478712.5:n.699+47A>T
ENST00000482528.1:n.319A>T
ENST00000485956.1:n.396+47A>T
ENST00000494110.5:n.700+47A>T
ENST00000495439.5:n.1397+47A>T
NM_001042467.2:c.1020+47A>T	NP_001035932.1:n.1020+47A>T
NM_001281473.1:c.900+47A>T	NP_001268402.1:n.900+47A>T
NM_001281474.1:c.675+7534A>T	NP_001268403.1:n.675+7534A>T
NM_024101.6:c.1020+47A>T	NP_077006.1:n.1020+47A>T
NR_104019.1:n.1263+47A>T
XM_006712737.1:c.900+47A>T	XP_006712800.1:n.900+47A>T
XM_006712739.1:c.1020+47A>T	XP_006712802.1:n.1020+47A>T
XM_006712740.1:c.900+47A>T	XP_006712803.1:n.900+47A>T
XM_011511811.1:c.1020+47A>T	XP_011510113.1:n.1020+47A>T
XM_011511812.1:c.585+47A>T	XP_011510114.1:n.585+47A>T
XR_923025.1:n.1231+47A>T
XM_017004893.1:c.1020+47A>T	XP_016860382.1:n.1020+47A>T
XM_017004894.2:c.1020+47A>T	XP_016860383.1:n.1020+47A>T
NM_024101.7:c.1020+47A>T MANE Select	NP_077006.1:n.1020+47A>T
NM_001042467.3:c.1020+47A>T	NP_001035932.1:n.1020+47A>T
NM_001281473.2:c.900+47A>T	NP_001268402.1:n.900+47A>T
NM_001281474.2:c.675+7534A>T	NP_001268403.1:n.675+7534A>T
NR_104019.2:n.1231+47A>T