Canonical Allele Identifier: CA293083

Gene: RMND1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151423604T>A , CM000668.2:g.151423604T>A	GRCh38
NC_000006.11:g.151744739T>A , CM000668.1:g.151744739T>A	GRCh37
NC_000006.10:g.151786432T>A	NCBI36
NG_033031.1:g.33578A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644054.2:c.*140A>T	ENSP00000496328.2:n.*140A>T
ENST00000646926.2:c.858A>T	ENSP00000494215.2:p.Glu286Asp
ENST00000682004.1:n.1029A>T
ENST00000682299.1:c.858A>T	ENSP00000506811.1:p.Glu286Asp
ENST00000682392.1:c.858A>T	ENSP00000508314.1:p.Glu286Asp
ENST00000682641.1:c.858A>T	ENSP00000506793.1:p.Glu286Asp
ENST00000683439.1:n.1003A>T
ENST00000683724.1:c.858A>T	ENSP00000507984.1:p.Glu286Asp
ENST00000684301.1:c.*257A>T	ENSP00000507824.1:n.*257A>T
ENST00000684605.1:n.1398A>T
ENST00000684658.1:n.1003A>T
ENST00000684715.1:n.1003A>T
ENST00000684765.1:c.858A>T	ENSP00000507910.1:p.Glu286Asp
ENST00000336451.8:c.*257A>T	ENSP00000336683.4:n.*257A>T
ENST00000444024.3:c.858A>T MANE Select	ENSP00000412708.2:p.Glu286Asp
ENST00000622845.5:c.348A>T	ENSP00000481280.1:p.Glu116Asp
ENST00000643550.1:n.652A>T
ENST00000644054.1:c.781A>T
ENST00000644711.1:c.858A>T	ENSP00000494106.1:p.Glu286Asp
ENST00000645367.1:n.901A>T
ENST00000645895.1:n.975A>T
ENST00000646926.1:c.266A>T
ENST00000336451.7:c.225A>T	ENSP00000336683.3:p.Glu75Asp
ENST00000367303.8:c.858A>T	ENSP00000356272.4:p.Glu286Asp
ENST00000444024.1:c.348A>T	ENSP00000412708.1:p.Glu116Asp
ENST00000622845.4:c.348A>T	ENSP00000481280.1:p.Glu116Asp
NM_001271937.1:c.348A>T	NP_001258866.1:p.Glu116Asp
NM_017909.3:c.858A>T	NP_060379.2:p.Glu286Asp
XM_005267040.2:c.225A>T	XP_005267097.1:p.Glu75Asp
XR_942497.1:n.1038A>T
XM_005267040.4:c.225A>T	XP_005267097.1:p.Glu75Asp
XM_017010988.2:c.225A>T	XP_016866477.1:p.Glu75Asp
XR_001743503.2:n.1026A>T
XR_002956288.1:n.983A>T
NM_017909.4:c.858A>T MANE Select	NP_060379.2:p.Glu286Asp
NM_001271937.2:c.348A>T	NP_001258866.1:p.Glu116Asp