Canonical Allele Identifier: CA7012155
Gene: EDNRB HGNC NCBI
EDNRB-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 255140
dbSNP Id: rs139317762

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77898290G>C , CM000675.2:g.77898290G>C GRCh38
NC_000013.10:g.78472425G>C , CM000675.1:g.78472425G>C GRCh37
NC_000013.9:g.77370426G>C NCBI36
NG_011630.2:g.82240C>G
NG_011630.3:g.81434C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000475537.2:c.1239C>G (EDNRB) ENSP00000487082.2:p.Ser413=
ENST00000645696.1:c.583C>G (EDNRB) ENSP00000495984.1:n.583C>G
ENST00000646605.1:c.1239C>G (EDNRB) ENSP00000494278.1:p.Ser413=
ENST00000646607.2:c.1239C>G (EDNRB) MANE Select ENSP00000493527.1:p.Ser413=
ENST00000646948.1:c.1239C>G (EDNRB) ENSP00000493895.1:p.Ser413=
ENST00000334286.7:c.1239C>G (EDNRB) ENSP00000335311.5:p.Ser413=
ENST00000377211.8:c.1509C>G (EDNRB) ENSP00000366416.4:p.Ser503=
ENST00000626030.1:c.1194+1569C>G (EDNRB) ENSP00000486202.1:n.1194+1569C>G
NM_000115.3:c.1239C>G (EDNRB) NP_000106.1:p.Ser413=
NM_001122659.2:c.1239C>G (EDNRB) NP_001116131.1:p.Ser413=
NM_001201397.1:c.1509C>G (EDNRB) NP_001188326.1:p.Ser503=
NM_003991.3:c.1194+1569C>G (EDNRB) NP_003982.1:n.1194+1569C>G
NR_103853.1:n.1695-9402G>C (EDNRB-AS1)
XM_005266275.2:c.*94C>G (EDNRB) XP_005266332.2:n.*94C>G
XM_011534949.1:c.1239C>G (EDNRB) XP_011533251.1:p.Ser413=
NM_000115.4:c.1239C>G (EDNRB) NP_000106.1:p.Ser413=
NM_001122659.3:c.1239C>G (EDNRB) MANE Select NP_001116131.1:p.Ser413=
NM_000115.5:c.1239C>G (EDNRB) NP_000106.1:p.Ser413=
NM_003991.4:c.1194+1569C>G (EDNRB) NP_003982.1:n.1194+1569C>G