Canonical Allele Identifier: CA788752523
Gene: EDNRA HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.147542688G>A , CM000666.2:g.147542688G>A GRCh38
NC_000004.11:g.148463840G>A , CM000666.1:g.148463840G>A GRCh37
NC_000004.10:g.148683290G>A NCBI36
NG_013343.1:g.66772G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000324300.10:c.*70G>A ENSP00000315011.5:n.*70G>A
ENST00000648866.1:c.*70G>A ENSP00000496976.1:n.*70G>A
ENST00000651419.1:c.*70G>A MANE Select ENSP00000498969.1:n.*70G>A
ENST00000324300.9:c.*70G>A ENSP00000315011.5:n.*70G>A
ENST00000358556.8:c.*70G>A ENSP00000351359.4:n.*70G>A
ENST00000503721.1:n.894G>A
ENST00000506066.1:c.1027G>A ENSP00000425281.1:n.1027G>A
ENST00000510697.5:c.1155G>A ENSP00000427259.1:n.1155G>A
ENST00000511804.5:c.*70G>A ENSP00000425354.1:n.*70G>A
NM_001166055.1:c.*70G>A NP_001159527.1:n.*70G>A
NM_001256283.1:c.*70G>A NP_001243212.1:n.*70G>A
NM_001957.3:c.*70G>A NP_001948.1:n.*70G>A
NR_045958.1:n.1685G>A
NR_148963.1:n.1394G>A
NR_148964.1:n.1195G>A
NM_001957.4:c.*70G>A MANE Select NP_001948.1:n.*70G>A
NR_045958.2:n.1505G>A
NR_148963.2:n.1214G>A
NR_148964.2:n.1015G>A
NM_001166055.2:c.*70G>A NP_001159527.1:n.*70G>A