Canonical Allele Identifier: CA9930464

Gene: EDN3

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.59324397A>C , CM000682.2:g.59324397A>C	GRCh38
NC_000020.10:g.57899452A>C , CM000682.1:g.57899452A>C	GRCh37
NC_000020.9:g.57332847A>C	NCBI36
NG_008050.1:g.28954A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_207034.3:c.655A>C MANE Select	NP_996917.1:p.Ser219Arg
ENST00000337938.7:c.655A>C MANE Select	ENSP00000337128.2:p.Ser219Arg
NM_001302455.1:c.*62A>C	NP_001289384.1:n.*62A>C
NM_001302455.2:c.*62A>C	NP_001289384.1:n.*62A>C
NM_001302456.1:c.*30A>C	NP_001289385.1:n.*30A>C
NM_001302456.2:c.*30A>C	NP_001289385.1:n.*30A>C
NM_207032.2:c.*30A>C	NP_996915.1:n.*30A>C
NM_207032.3:c.*30A>C	NP_996915.1:n.*30A>C
NM_207033.2:c.613A>C	NP_996916.1:p.Ser205Arg
NM_207033.3:c.613A>C	NP_996916.1:p.Ser205Arg
NM_207034.2:c.655A>C	NP_996917.1:p.Ser219Arg
ENST00000311585.11:c.*30A>C	ENSP00000311854.7:n.*30A>C
ENST00000337938.6:c.655A>C	ENSP00000337128.2:p.Ser219Arg
ENST00000371025.7:c.*30A>C	ENSP00000360064.3:n.*30A>C
ENST00000371028.6:c.655A>C	ENSP00000360067.2:p.Ser219Arg
ENST00000395654.3:c.613A>C	ENSP00000379015.3:p.Ser205Arg
ENST00000644821.1:c.*116A>C	ENSP00000493472.1:n.*116A>C
ENST00000671744.1:n.1296A>C
ENST00000672969.1:c.557A>C
XM_005260312.3:c.694A>C	XP_005260369.1:p.Ser232Arg
XM_005260312.4:c.694A>C	XP_005260369.1:p.Ser232Arg
XM_005260313.3:c.*30A>C	XP_005260370.1:n.*30A>C
XM_005260313.5:c.*30A>C	XP_005260370.1:n.*30A>C
XM_006723734.2:c.*93A>C	XP_006723797.1:n.*93A>C
XM_006723734.3:c.*93A>C	XP_006723797.1:n.*93A>C
XM_011528655.1:c.673A>C	XP_011526957.1:p.Ser225Arg
XM_011528655.2:c.673A>C	XP_011526957.1:p.Ser225Arg
XM_024451847.1:c.*98A>C	XP_024307615.1:n.*98A>C
XM_024451848.1:c.*102A>C	XP_024307616.1:n.*102A>C
XR_002958461.1:n.1132A>C
XR_002958462.1:n.1160A>C
XR_936513.1:n.1137A>C
XR_936513.2:n.1145A>C