Canonical Allele Identifier: CA4050942

Gene: RMND1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151430165A>T , CM000668.2:g.151430165A>T	GRCh38
NC_000006.11:g.151751300A>T , CM000668.1:g.151751300A>T	GRCh37
NC_000006.10:g.151792993A>T	NCBI36
NG_033031.1:g.27017T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644054.2:c.728T>A	ENSP00000496328.2:p.Leu243Gln
ENST00000646926.2:c.702T>A	ENSP00000494215.2:p.Ala234=
ENST00000682004.1:n.873T>A
ENST00000682299.1:c.702T>A	ENSP00000506811.1:p.Ala234=
ENST00000682392.1:c.702T>A	ENSP00000508314.1:p.Ala234=
ENST00000682641.1:c.702T>A	ENSP00000506793.1:p.Ala234=
ENST00000682760.1:n.847T>A
ENST00000683439.1:n.847T>A
ENST00000683724.1:c.702T>A	ENSP00000507984.1:p.Ala234=
ENST00000683740.1:n.847T>A
ENST00000684301.1:c.*101T>A	ENSP00000507824.1:n.*101T>A
ENST00000684605.1:n.1242T>A
ENST00000684658.1:n.847T>A
ENST00000684715.1:n.847T>A
ENST00000684765.1:c.702T>A	ENSP00000507910.1:p.Ala234=
ENST00000336451.8:c.*101T>A	ENSP00000336683.4:n.*101T>A
ENST00000444024.3:c.702T>A MANE Select	ENSP00000412708.2:p.Ala234=
ENST00000622845.5:c.192T>A	ENSP00000481280.1:p.Ala64=
ENST00000643550.1:n.496T>A
ENST00000644054.1:c.625T>A
ENST00000644711.1:c.702T>A	ENSP00000494106.1:p.Ala234=
ENST00000645367.1:n.846T>A
ENST00000645895.1:n.819T>A
ENST00000646926.1:c.110T>A
ENST00000336451.7:c.69T>A	ENSP00000336683.3:p.Ala23=
ENST00000367303.8:c.702T>A	ENSP00000356272.4:p.Ala234=
ENST00000444024.1:c.192T>A	ENSP00000412708.1:p.Ala64=
ENST00000622845.4:c.192T>A	ENSP00000481280.1:p.Ala64=
NM_001271937.1:c.192T>A	NP_001258866.1:p.Ala64=
NM_017909.3:c.702T>A	NP_060379.2:p.Ala234=
XM_005267040.2:c.69T>A	XP_005267097.1:p.Ala23=
XR_942497.1:n.882T>A
XM_005267040.4:c.69T>A	XP_005267097.1:p.Ala23=
XM_017010988.2:c.69T>A	XP_016866477.1:p.Ala23=
XR_001743503.2:n.870T>A
XR_002956288.1:n.827T>A
NM_017909.4:c.702T>A MANE Select	NP_060379.2:p.Ala234=
NM_001271937.2:c.192T>A	NP_001258866.1:p.Ala64=