Canonical Allele Identifier: CA2677349569
Gene: EDN1 HGNC NCBI

Linked Data

gnomAD v4: 6-12290300-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.12290300C>A , CM000668.2:g.12290300C>A GRCh38
NC_000006.11:g.12290533C>A , CM000668.1:g.12290533C>A GRCh37
NC_000006.10:g.12398519C>A NCBI36
NG_016196.1:g.5005C>A

Transcript Alleles

HGVS Amino-acid change
NM_001168319.1:c.-330C>A NP_001161791.1:n.-330C>A
NM_001955.4:c.-330C>A NP_001946.3:n.-330C>A
XM_011514330.1:c.-1-329C>A XP_011512632.1:n.-1-329C>A
XM_011514331.1:c.-1-329C>A XP_011512633.1:n.-1-329C>A
XM_011514332.1:c.-1-329C>A XP_011512634.1:n.-1-329C>A
XM_011514330.2:c.-1-329C>A XP_011512632.1:n.-1-329C>A
XM_011514331.3:c.-1-329C>A XP_011512633.1:n.-1-329C>A
XM_011514332.2:c.-1-329C>A XP_011512634.1:n.-1-329C>A
XM_017010331.1:c.-2+177C>A XP_016865820.1:n.-2+177C>A
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