Canonical Allele Identifier: CA293088

Gene: RMND1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151445687C>A , CM000668.2:g.151445687C>A	GRCh38
NC_000006.11:g.151766822C>A , CM000668.1:g.151766822C>A	GRCh37
NC_000006.10:g.151808515C>A	NCBI36
NG_033031.1:g.11495G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644054.2:c.125G>T	ENSP00000496328.2:p.Ser42Ile
ENST00000646926.2:c.125G>T	ENSP00000494215.2:p.Ser42Ile
ENST00000682004.1:n.270G>T
ENST00000682299.1:c.125G>T	ENSP00000506811.1:p.Ser42Ile
ENST00000682392.1:c.125G>T	ENSP00000508314.1:p.Ser42Ile
ENST00000682641.1:c.125G>T	ENSP00000506793.1:p.Ser42Ile
ENST00000682760.1:n.270G>T
ENST00000683439.1:n.270G>T
ENST00000683724.1:c.125G>T	ENSP00000507984.1:p.Ser42Ile
ENST00000683740.1:n.270G>T
ENST00000684301.1:c.125G>T	ENSP00000507824.1:p.Ser42Ile
ENST00000684658.1:n.270G>T
ENST00000684715.1:n.270G>T
ENST00000684765.1:c.125G>T	ENSP00000507910.1:p.Ser42Ile
ENST00000444024.3:c.125G>T MANE Select	ENSP00000412708.2:p.Ser42Ile
ENST00000491268.2:c.125G>T	ENSP00000494948.1:p.Ser42Ile
ENST00000622845.5:c.-7+6329G>T	ENSP00000481280.1:n.-7+6329G>T
ENST00000643564.1:n.198G>T
ENST00000644054.1:c.22G>T
ENST00000644711.1:c.125G>T	ENSP00000494106.1:p.Ser42Ile
ENST00000645367.1:n.269G>T
ENST00000645895.1:n.216G>T
ENST00000645917.1:n.344G>T
ENST00000367303.8:c.125G>T	ENSP00000356272.4:p.Ser42Ile
ENST00000444024.1:c.-7+6329G>T	ENSP00000412708.1:n.-7+6329G>T
ENST00000491268.1:n.139G>T
ENST00000622845.4:c.-7+6329G>T	ENSP00000481280.1:n.-7+6329G>T
NM_001271937.1:c.-7+6329G>T	NP_001258866.1:n.-7+6329G>T
NM_017909.3:c.125G>T	NP_060379.2:p.Ser42Ile
XR_942497.1:n.305G>T
XM_005267040.4:c.-156+6329G>T	XP_005267097.1:n.-156+6329G>T
XM_017010988.2:c.-535G>T	XP_016866477.1:n.-535G>T
XR_001743503.2:n.293G>T
XR_002956288.1:n.250G>T
NM_017909.4:c.125G>T MANE Select	NP_060379.2:p.Ser42Ile
NM_001271937.2:c.-7+6329G>T	NP_001258866.1:n.-7+6329G>T