Canonical Allele Identifier: CA4050801

Gene: RMND1

Linked Data

• ClinVar Variation Id: 440932
• ClinVar RCV Id: RCV000509317 ; RCV000521621 ; RCV003902814
• dbSNP Id: rs142588921
• ExAC: 6:151738529 C / T
• gnomAD v2: 6-151738529-C-T
• gnomAD v3: 6-151417394-C-T
• gnomAD v4: 6-151417394-C-T
• MyVariant Identifiers: chr6:g.151738529C>T (hg19) ; chr6:g.151417394C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151417394C>T , CM000668.2:g.151417394C>T	GRCh38
NC_000006.11:g.151738529C>T , CM000668.1:g.151738529C>T	GRCh37
NC_000006.10:g.151780222C>T	NCBI36
NG_033031.1:g.39788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644054.2:c.*367G>A	ENSP00000496328.2:n.*367G>A
ENST00000646926.2:c.*45G>A	ENSP00000494215.2:n.*45G>A
ENST00000682004.1:n.2475G>A
ENST00000682299.1:c.1002+5147G>A	ENSP00000506811.1:n.1002+5147G>A
ENST00000682392.1:c.1085G>A	ENSP00000508314.1:p.Arg362His
ENST00000682641.1:c.1085G>A	ENSP00000506793.1:p.Arg362His
ENST00000683439.1:n.3368G>A
ENST00000683724.1:c.1085G>A	ENSP00000507984.1:p.Arg362His
ENST00000684301.1:c.*484G>A	ENSP00000507824.1:n.*484G>A
ENST00000684605.1:n.1625G>A
ENST00000684658.1:n.1230G>A
ENST00000684715.1:n.1230G>A
ENST00000684765.1:c.*13G>A	ENSP00000507910.1:n.*13G>A
ENST00000336451.8:c.*484G>A	ENSP00000336683.4:n.*484G>A
ENST00000444024.3:c.1085G>A MANE Select	ENSP00000412708.2:p.Arg362His
ENST00000622845.5:c.575G>A	ENSP00000481280.1:p.Arg192His
ENST00000644054.1:c.1008G>A
ENST00000644711.1:c.1085G>A	ENSP00000494106.1:p.Arg362His
ENST00000645895.1:n.1249G>A
ENST00000646926.1:c.428G>A
ENST00000336451.7:c.452G>A	ENSP00000336683.3:p.Arg151His
ENST00000367303.8:c.1085G>A	ENSP00000356272.4:p.Arg362His
ENST00000444024.1:c.575G>A	ENSP00000412708.1:p.Arg192His
ENST00000622845.4:c.575G>A	ENSP00000481280.1:p.Arg192His
NM_001271937.1:c.575G>A	NP_001258866.1:p.Arg192His
NM_017909.3:c.1085G>A	NP_060379.2:p.Arg362His
XM_005267040.2:c.452G>A	XP_005267097.1:p.Arg151His
XR_942497.1:n.1265G>A
XM_005267040.4:c.452G>A	XP_005267097.1:p.Arg151His
XM_017010988.2:c.452G>A	XP_016866477.1:p.Arg151His
XR_001743503.2:n.1253G>A
XR_002956288.1:n.1210G>A
NM_017909.4:c.1085G>A MANE Select	NP_060379.2:p.Arg362His
NM_001271937.2:c.575G>A	NP_001258866.1:p.Arg192His