Canonical Allele Identifier: CA441752417

Gene: EDNRA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.147535933G>A , CM000666.2:g.147535933G>A	GRCh38
NC_000004.11:g.148457085G>A , CM000666.1:g.148457085G>A	GRCh37
NC_000004.10:g.148676535G>A	NCBI36
NG_013343.1:g.60017G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324300.10:c.804G>A	ENSP00000315011.5:p.Leu268=
ENST00000648866.1:c.129G>A	ENSP00000496976.1:p.Leu43=
ENST00000651419.1:c.804G>A MANE Select	ENSP00000498969.1:p.Leu268=
ENST00000324300.9:c.804G>A	ENSP00000315011.5:p.Leu268=
ENST00000358556.8:c.477G>A	ENSP00000351359.4:p.Leu159=
ENST00000503721.1:n.344G>A
ENST00000506066.1:c.477G>A	ENSP00000425281.1:p.Leu159=
ENST00000510697.5:c.605G>A	ENSP00000427259.1:n.605G>A
ENST00000511804.5:c.129G>A	ENSP00000425354.1:p.Leu43=
NM_001166055.1:c.477G>A	NP_001159527.1:p.Leu159=
NM_001256283.1:c.129G>A	NP_001243212.1:p.Leu43=
NM_001957.3:c.804G>A	NP_001948.1:p.Leu268=
NR_045958.1:n.1135G>A
NR_148963.1:n.844G>A
NR_148964.1:n.645G>A
NM_001957.4:c.804G>A MANE Select	NP_001948.1:p.Leu268=
NR_045958.2:n.955G>A
NR_148963.2:n.664G>A
NR_148964.2:n.465G>A
NM_001166055.2:c.477G>A	NP_001159527.1:p.Leu159=