Canonical Allele Identifier: CA701125489
Gene: EDNRB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77931451G>A , CM000675.2:g.77931451G>A GRCh38
NC_000013.10:g.78505586G>A , CM000675.1:g.78505586G>A GRCh37
NC_000013.9:g.77403587G>A NCBI36
NG_011630.2:g.49079C>T
NG_011630.3:g.48273C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000646948.1:c.-51-12827C>T ENSP00000493895.1:n.-51-12827C>T
NM_000115.3:c.-51-12827C>T NP_000106.1:n.-51-12827C>T
NM_000115.4:c.-51-12827C>T NP_000106.1:n.-51-12827C>T
NM_000115.5:c.-51-12827C>T NP_000106.1:n.-51-12827C>T