Canonical Allele Identifier: CA15778659
Gene: EDNRB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77920970A>G , CM000675.2:g.77920970A>G GRCh38
NC_000013.10:g.78495105A>G , CM000675.1:g.78495105A>G GRCh37
NC_000013.9:g.77393106A>G NCBI36
NG_011630.2:g.59560T>C
NG_011630.3:g.58754T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000646948.1:c.-51-2346T>C ENSP00000493895.1:n.-51-2346T>C
NM_000115.3:c.-51-2346T>C NP_000106.1:n.-51-2346T>C
NM_000115.4:c.-51-2346T>C NP_000106.1:n.-51-2346T>C
NM_000115.5:c.-51-2346T>C NP_000106.1:n.-51-2346T>C