Canonical Allele Identifier: CA448427616
Gene: EDN1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12290810_12290811dup , CM000668.2:g.12290810_12290811dup GRCh38
NC_000006.11:g.12291043_12291044dup , CM000668.1:g.12291043_12291044dup GRCh37
NC_000006.10:g.12399029_12399030dup NCBI36
NG_016196.1:g.5515_5516dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000379375.6:c.64+117_64+118dup MANE Select ENSP00000368683.5:n.64+117_64+118dup
ENST00000379375.5:c.64+117_64+118dup ENSP00000368683.5:n.64+117_64+118dup
NM_001168319.1:c.64+117_64+118dup NP_001161791.1:n.64+117_64+118dup
NM_001955.4:c.64+117_64+118dup NP_001946.3:n.64+117_64+118dup
XM_011514330.1:c.64+117_64+118dup XP_011512632.1:n.64+117_64+118dup
XM_011514331.1:c.64+117_64+118dup XP_011512633.1:n.64+117_64+118dup
XM_011514332.1:c.64+117_64+118dup XP_011512634.1:n.64+117_64+118dup
XM_011514330.2:c.64+117_64+118dup XP_011512632.1:n.64+117_64+118dup
XM_011514331.3:c.64+117_64+118dup XP_011512633.1:n.64+117_64+118dup
XM_011514332.2:c.64+117_64+118dup XP_011512634.1:n.64+117_64+118dup
XM_017010331.1:c.64+117_64+118dup XP_016865820.1:n.64+117_64+118dup
NM_001955.5:c.64+117_64+118dup MANE Select NP_001946.3:n.64+117_64+118dup
NM_001168319.2:c.64+117_64+118dup NP_001161791.1:n.64+117_64+118dup