Canonical Allele Identifier: CA7012487

Gene: EDNRB

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77919598A>T , CM000675.2:g.77919598A>T	GRCh38
NC_000013.10:g.78493733A>T , CM000675.1:g.78493733A>T	GRCh37
NC_000013.9:g.77391734A>T	NCBI36
NG_011630.2:g.60932T>A
NG_011630.3:g.60126T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000115.3:c.-51-974T>A	NP_000106.1:n.-51-974T>A
NM_000115.4:c.-51-974T>A	NP_000106.1:n.-51-974T>A
NM_000115.5:c.-51-974T>A	NP_000106.1:n.-51-974T>A
NM_001201397.1:c.18T>A	NP_001188326.1:p.Cys6Ter
ENST00000377211.8:c.18T>A	ENSP00000366416.4:p.Cys6Ter
ENST00000646948.1:c.-51-974T>A	ENSP00000493895.1:n.-51-974T>A