Canonical Allele Identifier: CA9487849

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511453C>T , CM000681.2:g.43511453C>T	GRCh38
NC_000019.9:g.44015605C>T , CM000681.1:g.44015605C>T	GRCh37
NC_000019.8:g.48707445C>T	NCBI36
NG_008141.1:g.20792G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.489G>A MANE Select	NP_055112.2:p.Arg163=
ENST00000292147.7:c.489G>A MANE Select	ENSP00000292147.1:p.Arg163=
NM_001320867.1:c.456G>A	NP_001307796.1:p.Arg152=
NM_001320867.2:c.456G>A	NP_001307796.1:p.Arg152=
NM_001320868.1:c.120G>A	NP_001307797.1:p.Arg40=
NM_001320868.2:c.120G>A	NP_001307797.1:p.Arg40=
NM_001320869.1:c.195G>A	NP_001307798.1:p.Arg65=
NM_001320869.2:c.195G>A	NP_001307798.1:p.Arg65=
NM_014297.3:c.489G>A	NP_055112.2:p.Arg163=
NM_014297.4:c.489G>A	NP_055112.2:p.Arg163=
ENST00000292147.6:c.489G>A	ENSP00000292147.1:p.Arg163=
ENST00000594342.5:c.*52G>A	ENSP00000469652.1:n.*52G>A
ENST00000598330.1:c.*52G>A	ENSP00000469219.1:n.*52G>A
ENST00000600651.5:c.489G>A	ENSP00000469037.1:p.Arg163=
XM_005258687.2:c.408G>A	XP_005258744.1:p.Arg136=
XM_005258687.4:c.408G>A	XP_005258744.1:p.Arg136=
XM_005258688.2:c.120G>A	XP_005258745.1:p.Arg40=
XM_011526685.1:c.227-2589G>A	XP_011524987.1:n.227-2589G>A