Canonical Allele Identifier: CA1069240645

Gene: EDNRA

Linked Data

• dbSNP Id: rs1730534718
• gnomAD v3: 4-147526138-G-A
• gnomAD v4: 4-147526138-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.147526138G>A , CM000666.2:g.147526138G>A	GRCh38
NC_000004.11:g.148447290G>A , CM000666.1:g.148447290G>A	GRCh37
NC_000004.10:g.148666740G>A	NCBI36
NG_013343.1:g.50222G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324300.10:c.548+6160G>A	ENSP00000315011.5:n.548+6160G>A
ENST00000648866.1:c.-128+6160G>A	ENSP00000496976.1:n.-128+6160G>A
ENST00000651419.1:c.548+6160G>A MANE Select	ENSP00000498969.1:n.548+6160G>A
ENST00000324300.9:c.548+6160G>A	ENSP00000315011.5:n.548+6160G>A
ENST00000358556.8:c.421-9739G>A	ENSP00000351359.4:n.421-9739G>A
ENST00000506066.1:c.421-9739G>A	ENSP00000425281.1:n.421-9739G>A
ENST00000510697.5:c.548+6160G>A	ENSP00000427259.1:n.548+6160G>A
ENST00000511804.5:c.-128+6160G>A	ENSP00000425354.1:n.-128+6160G>A
ENST00000514245.1:n.269-6368G>A
NM_001166055.1:c.421-9739G>A	NP_001159527.1:n.421-9739G>A
NM_001256283.1:c.-128+6160G>A	NP_001243212.1:n.-128+6160G>A
NM_001957.3:c.548+6160G>A	NP_001948.1:n.548+6160G>A
NR_045958.1:n.1078+6160G>A
NM_001354797.1:c.549-359G>A	NP_001341726.1:n.549-359G>A
NR_148963.1:n.588+6160G>A
NR_148964.1:n.588+6160G>A
NM_001957.4:c.548+6160G>A MANE Select	NP_001948.1:n.548+6160G>A
NM_001354797.2:c.549-359G>A	NP_001341726.1:n.549-359G>A
NR_045958.2:n.898+6160G>A
NR_148963.2:n.408+6160G>A
NR_148964.2:n.408+6160G>A
NM_001166055.2:c.421-9739G>A	NP_001159527.1:n.421-9739G>A