Canonical Allele Identifier: CA452739893

Gene: RMND1

Linked Data

• ClinVar Variation Id: 511016
• ClinVar RCV Id: RCV000601077
• dbSNP Id: rs1554340250
• MyVariant Identifiers: chr6:g.151726385T>C (hg19) ; chr6:g.151405250T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.151405250T>C , CM000668.2:g.151405250T>C	GRCh38
NC_000006.11:g.151726385T>C , CM000668.1:g.151726385T>C	GRCh37
NC_000006.10:g.151768078T>C	NCBI36
NG_033031.1:g.51932A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000646926.2:c.*295A>G	ENSP00000494215.2:n.*295A>G
ENST00000682004.1:n.2725A>G
ENST00000682299.1:c.1137A>G	ENSP00000506811.1:p.Gly379=
ENST00000682392.1:c.*136A>G	ENSP00000508314.1:n.*136A>G
ENST00000682641.1:c.1317+470A>G	ENSP00000506793.1:n.1317+470A>G
ENST00000683439.1:n.3618A>G
ENST00000683724.1:c.1335A>G	ENSP00000507984.1:p.Gly445=
ENST00000684301.1:c.*807A>G	ENSP00000507824.1:n.*807A>G
ENST00000684605.1:n.1875A>G
ENST00000684765.1:c.*263A>G	ENSP00000507910.1:n.*263A>G
ENST00000336451.8:c.*734A>G	ENSP00000336683.4:n.*734A>G
ENST00000444024.3:c.1335A>G MANE Select	ENSP00000412708.2:p.Gly445=
ENST00000622845.5:c.825A>G	ENSP00000481280.1:p.Gly275=
ENST00000644711.1:c.*258A>G	ENSP00000494106.1:n.*258A>G
ENST00000646926.1:c.678A>G
ENST00000336451.7:c.702A>G	ENSP00000336683.3:p.Gly234=
ENST00000367303.8:c.1335A>G	ENSP00000356272.4:p.Gly445=
ENST00000622845.4:c.825A>G	ENSP00000481280.1:p.Gly275=
NM_001271937.1:c.825A>G	NP_001258866.1:p.Gly275=
NM_017909.3:c.1335A>G	NP_060379.2:p.Gly445=
XM_005267040.2:c.702A>G	XP_005267097.1:p.Gly234=
XR_942497.1:n.1773A>G
XM_005267040.4:c.702A>G	XP_005267097.1:p.Gly234=
XM_017010988.2:c.702A>G	XP_016866477.1:p.Gly234=
XR_001743503.2:n.1503A>G
XR_002956288.1:n.1718A>G
NM_017909.4:c.1335A>G MANE Select	NP_060379.2:p.Gly445=
NM_001271937.2:c.825A>G	NP_001258866.1:p.Gly275=