Canonical Allele Identifier: CA3097864

Gene: EDNRA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.147486035G>A , CM000666.2:g.147486035G>A	GRCh38
NC_000004.11:g.148407187G>A , CM000666.1:g.148407187G>A	GRCh37
NC_000004.10:g.148626637G>A	NCBI36
NG_013343.1:g.10119G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001957.4:c.354G>A MANE Select	NP_001948.1:p.Leu118=
ENST00000651419.1:c.354G>A MANE Select	ENSP00000498969.1:p.Leu118=
NM_001166055.1:c.354G>A	NP_001159527.1:p.Leu118=
NM_001166055.2:c.354G>A	NP_001159527.1:p.Leu118=
NM_001256283.1:c.-256+4659G>A	NP_001243212.1:n.-256+4659G>A
NM_001354797.1:c.354G>A	NP_001341726.1:p.Leu118=
NM_001354797.2:c.354G>A	NP_001341726.1:p.Leu118=
NM_001957.3:c.354G>A	NP_001948.1:p.Leu118=
NR_045958.1:n.884G>A
NR_045958.2:n.704G>A
NR_148963.1:n.460+4659G>A
NR_148963.2:n.280+4659G>A
NR_148964.1:n.460+4659G>A
NR_148964.2:n.280+4659G>A
ENST00000324300.10:c.354G>A	ENSP00000315011.5:p.Leu118=
ENST00000324300.9:c.354G>A	ENSP00000315011.5:p.Leu118=
ENST00000358556.8:c.354G>A	ENSP00000351359.4:p.Leu118=
ENST00000506066.1:c.354G>A	ENSP00000425281.1:p.Leu118=
ENST00000510697.5:c.354G>A	ENSP00000427259.1:p.Leu118=
ENST00000511804.5:c.-256+4659G>A	ENSP00000425354.1:n.-256+4659G>A
ENST00000514245.1:n.202G>A
ENST00000648866.1:c.-322G>A	ENSP00000496976.1:n.-322G>A