Canonical Allele Identifier: CA2171922271

Gene: RMDN3

Linked Data

• dbSNP Id: rs2304583

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40739940A>C , CM000677.2:g.40739940A>C	GRCh38
NC_000015.9:g.41032138A>C , CM000677.1:g.41032138A>C	GRCh37
NC_000015.8:g.38819430A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000338376.8:c.971+193T>G MANE Select	ENSP00000342493.3:n.971+193T>G
ENST00000260385.10:c.971+193T>G	ENSP00000260385.6:n.971+193T>G
ENST00000338376.7:c.971+193T>G	ENSP00000342493.3:n.971+193T>G
ENST00000558232.5:c.477+193T>G
ENST00000558560.1:n.478-1898T>G
ENST00000558777.5:c.*522+193T>G	ENSP00000453357.1:n.*522+193T>G
ENST00000560460.5:c.686+193T>G	ENSP00000453978.1:n.686+193T>G
ENST00000560779.5:n.320+193T>G
NM_001304802.1:c.971+193T>G	NP_001291731.1:n.971+193T>G
NM_018145.2:c.971+193T>G	NP_060615.1:n.971+193T>G
XM_005254531.1:c.971+193T>G	XP_005254588.1:n.971+193T>G
XM_011521755.1:c.353+193T>G	XP_011520057.1:n.353+193T>G
NM_001323894.1:c.971+193T>G	NP_001310823.1:n.971+193T>G
NM_001323895.1:c.584+193T>G	NP_001310824.1:n.584+193T>G
NM_001323896.1:c.1049+193T>G	NP_001310825.1:n.1049+193T>G
NM_001323897.1:c.1049+193T>G	NP_001310826.1:n.1049+193T>G
XM_011521755.2:c.353+193T>G	XP_011520057.1:n.353+193T>G
NM_018145.3:c.971+193T>G MANE Select	NP_060615.1:n.971+193T>G
NM_001304802.2:c.971+193T>G	NP_001291731.1:n.971+193T>G
NM_001323894.2:c.971+193T>G	NP_001310823.1:n.971+193T>G
NM_001323895.2:c.584+193T>G	NP_001310824.1:n.584+193T>G
NM_001323896.2:c.1049+193T>G	NP_001310825.1:n.1049+193T>G
NM_001323897.2:c.1049+193T>G	NP_001310826.1:n.1049+193T>G