Canonical Allele Identifier: CA694712

Gene: RHCE

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25390874C>G , CM000663.2:g.25390874C>G	GRCh38
NC_000001.10:g.25717365C>G , CM000663.1:g.25717365C>G	GRCh37
NC_000001.9:g.25589952C>G	NCBI36
NG_009208.3:g.44319G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000294413.13:c.676G>C MANE Select	ENSP00000294413.6:p.Ala226Pro
ENST00000243186.10:c.676G>C	ENSP00000243186.7:p.Ala226Pro
ENST00000294413.11:c.676G>C	ENSP00000294413.6:p.Ala226Pro
ENST00000340849.8:c.487-1761G>C	ENSP00000345084.4:n.487-1761G>C
ENST00000346452.8:c.487-5030G>C	ENSP00000344485.4:n.487-5030G>C
ENST00000349320.7:c.628G>C	ENSP00000311185.4:p.Ala210Pro
ENST00000349438.8:c.676G>C	ENSP00000334570.5:p.Ala226Pro
ENST00000374352.6:c.676G>C	ENSP00000363472.3:p.Ala226Pro
ENST00000413854.5:c.676G>C	ENSP00000415417.2:p.Ala226Pro
ENST00000527187.5:n.831G>C
ENST00000527747.5:c.107+11722G>C
ENST00000533771.1:c.*132-1761G>C	ENSP00000435401.1:n.*132-1761G>C
NM_020485.4:c.676G>C	NP_065231.3:p.Ala226Pro
NM_138616.3:c.487-5030G>C	NP_619522.3:n.487-5030G>C
NM_138617.3:c.487-1761G>C	NP_619523.3:n.487-1761G>C
NM_138618.3:c.676G>C	NP_619524.3:p.Ala226Pro
XM_005245957.2:c.676G>C	XP_005246014.1:p.Ala226Pro
XM_006710810.2:c.676G>C	XP_006710873.1:p.Ala226Pro
XM_011541888.1:c.556G>C	XP_011540190.1:p.Ala186Pro
XM_011541889.1:c.547G>C	XP_011540191.1:p.Ala183Pro
XM_011541890.1:c.676G>C	XP_011540192.1:p.Ala226Pro
XM_011541891.1:c.508G>C	XP_011540193.1:p.Ala170Pro
NM_001330430.2:c.676G>C	NP_001317359.1:p.Ala226Pro
NM_020485.5:c.676G>C	NP_065231.3:p.Ala226Pro
NM_138616.4:c.487-5030G>C	NP_619522.3:n.487-5030G>C
NM_138617.4:c.487-1761G>C	NP_619523.3:n.487-1761G>C
NM_138618.5:c.676G>C	NP_619524.5:p.Ala226Pro
XM_005245957.4:c.676G>C	XP_005246014.1:p.Ala226Pro
XM_006710810.3:c.676G>C	XP_006710873.1:p.Ala226Pro
XM_011541888.3:c.556G>C	XP_011540190.1:p.Ala186Pro
XM_011541889.3:c.781G>C	XP_011540191.2:p.Ala261Pro
XM_011541891.3:c.508G>C	XP_011540193.1:p.Ala170Pro
XM_017002014.2:c.676G>C	XP_016857503.1:p.Ala226Pro
NM_001330430.4:c.676G>C	NP_001317359.1:p.Ala226Pro
NM_020485.7:c.-4294966581G>C
NM_138616.5:c.487-5030G>C	NP_619522.3:n.487-5030G>C
NM_138617.5:c.487-1761G>C	NP_619523.3:n.487-1761G>C
NM_138618.6:c.676G>C	NP_619524.5:p.Ala226Pro
NM_020485.8:c.676G>C MANE Select	NP_065231.4:p.Ala226Pro