Canonical Allele Identifier: CA362857283

Gene: EDN1

Linked Data

• MyVariant Identifiers: chr6:g.12296223T>G (hg19) ; chr6:g.12295990T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.12295990T>G , CM000668.2:g.12295990T>G	GRCh38
NC_000006.11:g.12296223T>G , CM000668.1:g.12296223T>G	GRCh37
NC_000006.10:g.12404209T>G	NCBI36
NG_016196.1:g.10695T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379375.6:c.562T>G MANE Select	ENSP00000368683.5:p.Ser188Ala
ENST00000379375.5:c.562T>G	ENSP00000368683.5:p.Ser188Ala
NM_001168319.1:c.559T>G	NP_001161791.1:p.Ser187Ala
NM_001955.4:c.562T>G	NP_001946.3:p.Ser188Ala
XM_011514330.1:c.562T>G	XP_011512632.1:p.Ser188Ala
XM_011514331.1:c.562T>G	XP_011512633.1:p.Ser188Ala
XM_011514332.1:c.559T>G	XP_011512634.1:p.Ser187Ala
XM_011514330.2:c.562T>G	XP_011512632.1:p.Ser188Ala
XM_011514331.3:c.562T>G	XP_011512633.1:p.Ser188Ala
XM_011514332.2:c.559T>G	XP_011512634.1:p.Ser187Ala
XM_017010331.1:c.562T>G	XP_016865820.1:p.Ser188Ala
NM_001955.5:c.562T>G MANE Select	NP_001946.3:p.Ser188Ala
NM_001168319.2:c.559T>G	NP_001161791.1:p.Ser187Ala