Canonical Allele Identifier: CA16621647
Gene: EDNRB HGNC NCBI
EDNRB-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425030
dbSNP Id: rs1064797177

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77901131dup , CM000675.2:g.77901131dup GRCh38
NC_000013.10:g.78475266dup , CM000675.1:g.78475266dup GRCh37
NC_000013.9:g.77373267dup NCBI36
NG_011630.2:g.79399dup
NG_011630.3:g.78593dup

Transcript Alleles

HGVS Amino-acid change
ENST00000475537.2:c.878dup (EDNRB) ENSP00000487082.2:p.Tyr293Ter
ENST00000643890.1:c.878dup (EDNRB) ENSP00000495815.1:p.Tyr293Ter
ENST00000645696.1:c.356dup (EDNRB) ENSP00000495984.1:p.Tyr119Ter
ENST00000646605.1:c.878dup (EDNRB) ENSP00000494278.1:p.Tyr293Ter
ENST00000646607.2:c.878dup (EDNRB) MANE Select ENSP00000493527.1:p.Tyr293Ter
ENST00000646948.1:c.878dup (EDNRB) ENSP00000493895.1:p.Tyr293Ter
ENST00000334286.7:c.878dup (EDNRB) ENSP00000335311.5:p.Tyr293Ter
ENST00000377211.8:c.1148dup (EDNRB) ENSP00000366416.4:p.Tyr383Ter
ENST00000626030.1:c.878dup (EDNRB) ENSP00000486202.1:p.Tyr293Ter
NM_000115.3:c.878dup (EDNRB) NP_000106.1:p.Tyr293Ter
NM_001122659.2:c.878dup (EDNRB) NP_001116131.1:p.Tyr293Ter
NM_001201397.1:c.1148dup (EDNRB) NP_001188326.1:p.Tyr383Ter
NM_003991.3:c.878dup (EDNRB) NP_003982.1:p.Tyr293Ter
NR_103853.1:n.1695-6561dup (EDNRB-AS1)
XM_005266275.2:c.878dup (EDNRB) XP_005266332.2:p.Tyr293Ter
XM_011534949.1:c.878dup (EDNRB) XP_011533251.1:p.Tyr293Ter
NM_000115.4:c.878dup (EDNRB) NP_000106.1:p.Tyr293Ter
NM_001122659.3:c.878dup (EDNRB) MANE Select NP_001116131.1:p.Tyr293Ter
NM_000115.5:c.878dup (EDNRB) NP_000106.1:p.Tyr293Ter
NM_003991.4:c.878dup (EDNRB) NP_003982.1:p.Tyr293Ter