Canonical Allele Identifier: CA3097915

Gene: EDNRA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.147532496T>C , CM000666.2:g.147532496T>C	GRCh38
NC_000004.11:g.148453648T>C , CM000666.1:g.148453648T>C	GRCh37
NC_000004.10:g.148673098T>C	NCBI36
NG_013343.1:g.56580T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001957.4:c.549-10T>C MANE Select	NP_001948.1:n.549-10T>C
ENST00000651419.1:c.549-10T>C MANE Select	ENSP00000498969.1:n.549-10T>C
NM_001166055.1:c.421-3381T>C	NP_001159527.1:n.421-3381T>C
NM_001166055.2:c.421-3381T>C	NP_001159527.1:n.421-3381T>C
NM_001256283.1:c.-127-10T>C	NP_001243212.1:n.-127-10T>C
NM_001957.3:c.549-10T>C	NP_001948.1:n.549-10T>C
NR_045958.1:n.1079-3381T>C
NR_045958.2:n.899-3381T>C
NR_148963.1:n.589-10T>C
NR_148963.2:n.409-10T>C
NR_148964.1:n.589-3381T>C
NR_148964.2:n.409-3381T>C
ENST00000324300.10:c.549-10T>C	ENSP00000315011.5:n.549-10T>C
ENST00000324300.9:c.549-10T>C	ENSP00000315011.5:n.549-10T>C
ENST00000358556.8:c.421-3381T>C	ENSP00000351359.4:n.421-3381T>C
ENST00000503721.1:n.89-10T>C
ENST00000506066.1:c.421-3381T>C	ENSP00000425281.1:n.421-3381T>C
ENST00000510697.5:c.549-3381T>C	ENSP00000427259.1:n.549-3381T>C
ENST00000511804.5:c.-127-10T>C	ENSP00000425354.1:n.-127-10T>C
ENST00000514245.1:n.269-10T>C
ENST00000648866.1:c.-127-10T>C	ENSP00000496976.1:n.-127-10T>C