Canonical Allele Identifier: CA10575699

Gene: EDNRA

Linked Data

• ClinVar Variation Id: 190324
• ClinVar RCV Id: RCV000170510
• dbSNP Id: rs876657388
• MyVariant Identifiers: chr4:g.148460975G>A (hg19) ; chr4:g.147539823G>A (hg38)
• PubMed: PMID:16116593 ; PMID:25772936

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.147539823G>A , CM000666.2:g.147539823G>A	GRCh38
NC_000004.11:g.148460975G>A , CM000666.1:g.148460975G>A	GRCh37
NC_000004.10:g.148680425G>A	NCBI36
NG_013343.1:g.63907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324300.10:c.907G>A	ENSP00000315011.5:p.Glu303Lys
ENST00000648866.1:c.232G>A	ENSP00000496976.1:p.Glu78Lys
ENST00000651419.1:c.907G>A MANE Select	ENSP00000498969.1:p.Glu303Lys
ENST00000324300.9:c.907G>A	ENSP00000315011.5:p.Glu303Lys
ENST00000358556.8:c.580G>A	ENSP00000351359.4:p.Glu194Lys
ENST00000503721.1:n.447G>A
ENST00000506066.1:c.580G>A	ENSP00000425281.1:p.Glu194Lys
ENST00000510697.5:c.708G>A	ENSP00000427259.1:n.708G>A
ENST00000511804.5:c.232G>A	ENSP00000425354.1:p.Glu78Lys
NM_001166055.1:c.580G>A	NP_001159527.1:p.Glu194Lys
NM_001256283.1:c.232G>A	NP_001243212.1:p.Glu78Lys
NM_001957.3:c.907G>A	NP_001948.1:p.Glu303Lys
NR_045958.1:n.1238G>A
NR_148963.1:n.947G>A
NR_148964.1:n.748G>A
NM_001957.4:c.907G>A MANE Select	NP_001948.1:p.Glu303Lys
NR_045958.2:n.1058G>A
NR_148963.2:n.767G>A
NR_148964.2:n.568G>A
NM_001166055.2:c.580G>A	NP_001159527.1:p.Glu194Lys