Canonical Allele Identifier: CA3097973
Community Standard Title: NM_001957.4(EDNRA):c.828C>G (p.Thr276=)
Gene: EDNRA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.147535957C>G , CM000666.2:g.147535957C>G GRCh38
NC_000004.11:g.148457109C>G , CM000666.1:g.148457109C>G GRCh37
NC_000004.10:g.148676559C>G NCBI36
NG_013343.1:g.60041C>G

Transcript Alleles

HGVS Amino-acid Change
NM_001957.4:c.828C>G MANE Select NP_001948.1:p.Thr276=
ENST00000651419.1:c.828C>G MANE Select ENSP00000498969.1:p.Thr276=
NM_001166055.1:c.501C>G NP_001159527.1:p.Thr167=
NM_001166055.2:c.501C>G NP_001159527.1:p.Thr167=
NM_001256283.1:c.153C>G NP_001243212.1:p.Thr51=
NM_001957.3:c.828C>G NP_001948.1:p.Thr276=
NR_045958.1:n.1159C>G
NR_045958.2:n.979C>G
NR_148963.1:n.868C>G
NR_148963.2:n.688C>G
NR_148964.1:n.669C>G
NR_148964.2:n.489C>G
ENST00000324300.10:c.828C>G ENSP00000315011.5:p.Thr276=
ENST00000324300.9:c.828C>G ENSP00000315011.5:p.Thr276=
ENST00000358556.8:c.501C>G ENSP00000351359.4:p.Thr167=
ENST00000503721.1:n.368C>G
ENST00000506066.1:c.501C>G ENSP00000425281.1:p.Thr167=
ENST00000510697.5:c.629C>G ENSP00000427259.1:n.629C>G
ENST00000511804.5:c.153C>G ENSP00000425354.1:p.Thr51=
ENST00000648866.1:c.153C>G ENSP00000496976.1:p.Thr51=