Canonical Allele Identifier: CA2143674

Gene: RHBDD1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.226864892C>T , CM000664.2:g.226864892C>T	GRCh38
NC_000002.11:g.227729608C>T , CM000664.1:g.227729608C>T	GRCh37
NC_000002.10:g.227437852C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001167608.3:c.199C>T MANE Select	NP_001161080.1:p.Arg67Cys
ENST00000392062.7:c.199C>T MANE Select	ENSP00000375914.2:p.Arg67Cys
NM_001167608.1:c.199C>T	NP_001161080.1:p.Arg67Cys
NM_001167608.2:c.199C>T	NP_001161080.1:p.Arg67Cys
NM_001349069.1:c.199C>T	NP_001335998.1:p.Arg67Cys
NM_001349069.2:c.199C>T	NP_001335998.1:p.Arg67Cys
NM_001349071.1:c.199C>T	NP_001336000.1:p.Arg67Cys
NM_001349071.2:c.199C>T	NP_001336000.1:p.Arg67Cys
NM_001349072.1:c.199C>T	NP_001336001.1:p.Arg67Cys
NM_001349072.2:c.199C>T	NP_001336001.1:p.Arg67Cys
NM_032276.3:c.199C>T	NP_115652.2:p.Arg67Cys
NM_032276.4:c.199C>T	NP_115652.2:p.Arg67Cys
NM_032276.5:c.199C>T	NP_115652.2:p.Arg67Cys
ENST00000341329.7:c.199C>T	ENSP00000344779.3:p.Arg67Cys
ENST00000392062.6:c.199C>T	ENSP00000375914.2:p.Arg67Cys
ENST00000423616.1:c.199C>T	ENSP00000399694.1:p.Arg67Cys
ENST00000424132.1:c.199C>T	ENSP00000400765.1:p.Arg67Cys
ENST00000448992.5:c.199C>T	ENSP00000388847.1:p.Arg67Cys
XM_011511978.1:c.199C>T	XP_011510280.1:p.Arg67Cys
XM_011511979.1:c.199C>T	XP_011510281.1:p.Arg67Cys
XM_017005083.1:c.199C>T	XP_016860572.1:p.Arg67Cys
XM_017005084.2:c.199C>T	XP_016860573.1:p.Arg67Cys
XM_017005085.2:c.199C>T	XP_016860574.1:p.Arg67Cys
XM_017005086.2:c.199C>T	XP_016860575.1:p.Arg67Cys
XM_017005087.2:c.199C>T	XP_016860576.1:p.Arg67Cys
XM_017005088.1:c.199C>T	XP_016860577.1:p.Arg67Cys
XM_017005090.2:c.199C>T	XP_016860579.1:p.Arg67Cys
XM_017005092.2:c.199C>T	XP_016860581.1:p.Arg67Cys
XM_017005093.1:c.199C>T	XP_016860582.1:p.Arg67Cys
XM_017005094.1:c.199C>T	XP_016860583.1:p.Arg67Cys
XM_017005095.1:c.199C>T	XP_016860584.1:p.Arg67Cys
XR_001738982.2:n.717C>T
XR_001738983.2:n.2016C>T
XR_001738984.2:n.634C>T
XR_001738985.2:n.2002C>T
XR_001738986.2:n.535C>T
XR_001738987.2:n.1783C>T
XR_001738988.2:n.404C>T
XR_001738989.2:n.498C>T
XR_001738990.2:n.403C>T
XR_001738991.2:n.1715C>T
XR_923036.1:n.263C>T
XR_923037.1:n.634C>T
XR_923038.1:n.1778C>T
XR_923039.1:n.441C>T
XR_923040.1:n.403C>T