Canonical Allele Identifier: CA358423122

Gene: EDNRA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.147540414G>A , CM000666.2:g.147540414G>A	GRCh38
NC_000004.11:g.148461566G>A , CM000666.1:g.148461566G>A	GRCh37
NC_000004.10:g.148681016G>A	NCBI36
NG_013343.1:g.64498G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001957.4:c.1072G>A MANE Select	NP_001948.1:p.Ala358Thr
ENST00000651419.1:c.1072G>A MANE Select	ENSP00000498969.1:p.Ala358Thr
NM_001166055.1:c.745G>A	NP_001159527.1:p.Ala249Thr
NM_001166055.2:c.745G>A	NP_001159527.1:p.Ala249Thr
NM_001256283.1:c.397G>A	NP_001243212.1:p.Ala133Thr
NM_001957.3:c.1072G>A	NP_001948.1:p.Ala358Thr
NR_045958.1:n.1403G>A
NR_045958.2:n.1223G>A
NR_148963.1:n.1112G>A
NR_148963.2:n.932G>A
NR_148964.1:n.913G>A
NR_148964.2:n.733G>A
ENST00000324300.10:c.1072G>A	ENSP00000315011.5:p.Ala358Thr
ENST00000324300.9:c.1072G>A	ENSP00000315011.5:p.Ala358Thr
ENST00000358556.8:c.745G>A	ENSP00000351359.4:p.Ala249Thr
ENST00000503721.1:n.612G>A
ENST00000506066.1:c.745G>A	ENSP00000425281.1:p.Ala249Thr
ENST00000510697.5:c.873G>A	ENSP00000427259.1:n.873G>A
ENST00000511804.5:c.397G>A	ENSP00000425354.1:p.Ala133Thr
ENST00000648866.1:c.397G>A	ENSP00000496976.1:p.Ala133Thr