Canonical Allele Identifier: CA039513

Gene: RHCE

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25420739G>C , CM000663.2:g.25420739G>C	GRCh38
NC_000001.10:g.25747230G>C , CM000663.1:g.25747230G>C	GRCh37
NC_000001.9:g.25619817G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294413.13:c.48C>G MANE Select	ENSP00000294413.6:p.Cys16Trp
ENST00000243186.10:c.48C>G	ENSP00000243186.7:p.Cys16Trp
ENST00000294413.11:c.48C>G	ENSP00000294413.6:p.Cys16Trp
ENST00000340849.8:c.48C>G	ENSP00000345084.4:p.Cys16Trp
ENST00000346452.8:c.48C>G	ENSP00000344485.4:p.Cys16Trp
ENST00000349320.7:c.-40+8214C>G	ENSP00000311185.4:n.-40+8214C>G
ENST00000349438.8:c.48C>G	ENSP00000334570.5:p.Cys16Trp
ENST00000374352.6:c.48C>G	ENSP00000363472.3:p.Cys16Trp
ENST00000413854.5:c.48C>G	ENSP00000415417.2:p.Cys16Trp
ENST00000495048.1:n.110C>G
ENST00000527187.5:n.203C>G
ENST00000533771.1:c.48C>G	ENSP00000435401.1:p.Cys16Trp
XM_005245957.2:c.48C>G	XP_005246014.1:p.Cys16Trp
XM_006710810.2:c.48C>G	XP_006710873.1:p.Cys16Trp
XM_011541888.1:c.-117C>G	XP_011540190.1:n.-117C>G
XM_011541889.1:c.19+9201C>G	XP_011540191.1:n.19+9201C>G
XM_011541890.1:c.48C>G	XP_011540192.1:p.Cys16Trp
XM_011541891.1:c.-21+8214C>G	XP_011540193.1:n.-21+8214C>G
XM_005245957.4:c.48C>G	XP_005246014.1:p.Cys16Trp
XM_006710810.3:c.48C>G	XP_006710873.1:p.Cys16Trp
XM_011541888.3:c.-117C>G	XP_011540190.1:n.-117C>G
XM_011541889.3:c.253+9201C>G	XP_011540191.2:n.253+9201C>G
XM_011541891.3:c.-21+8214C>G	XP_011540193.1:n.-21+8214C>G
XM_017002014.2:c.48C>G	XP_016857503.1:p.Cys16Trp
NM_020485.8:c.48C>G MANE Select	NP_065231.4:p.Cys16Trp