Canonical Allele Identifier: CA9487866
Gene: ETHE1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43511564C>T , CM000681.2:g.43511564C>T GRCh38
NC_000019.9:g.44015716C>T , CM000681.1:g.44015716C>T GRCh37
NC_000019.8:g.48707556C>T NCBI36
NG_008141.1:g.20681G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014297.5:c.378G>A MANE Select NP_055112.2:p.Ala126=
ENST00000292147.7:c.378G>A MANE Select ENSP00000292147.1:p.Ala126=
NM_001320867.1:c.345G>A NP_001307796.1:p.Ala115=
NM_001320867.2:c.345G>A NP_001307796.1:p.Ala115=
NM_001320868.1:c.9G>A NP_001307797.1:p.Ala3=
NM_001320868.2:c.9G>A NP_001307797.1:p.Ala3=
NM_001320869.1:c.84G>A NP_001307798.1:p.Ala28=
NM_001320869.2:c.84G>A NP_001307798.1:p.Ala28=
NM_014297.3:c.378G>A NP_055112.2:p.Ala126=
NM_014297.4:c.378G>A NP_055112.2:p.Ala126=
ENST00000292147.6:c.378G>A ENSP00000292147.1:p.Ala126=
ENST00000594342.5:c.229G>A ENSP00000469652.1:p.Val77Ile
ENST00000598330.1:c.229G>A ENSP00000469219.1:p.Val77Ile
ENST00000600651.5:c.378G>A ENSP00000469037.1:p.Ala126=
ENST00000602138.1:c.*382G>A ENSP00000468964.1:n.*382G>A
XM_005258687.2:c.297G>A XP_005258744.1:p.Ala99=
XM_005258687.4:c.297G>A XP_005258744.1:p.Ala99=
XM_005258688.2:c.9G>A XP_005258745.1:p.Ala3=
XM_011526685.1:c.227-2700G>A XP_011524987.1:n.227-2700G>A