Canonical Allele Identifier: CA2337532185

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511455G= , CM000681.2:g.43511455G=	GRCh38
NC_000019.9:g.44015607G= , CM000681.1:g.44015607G=	GRCh37
NC_000019.8:g.48707447G=	NCBI36
NG_008141.1:g.20790C=

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.487C= MANE Select	NP_055112.2:p.Arg163=
ENST00000292147.7:c.487C= MANE Select	ENSP00000292147.1:p.Arg163=
NM_001320867.1:c.454C=	NP_001307796.1:p.Arg152=
NM_001320867.2:c.454C=	NP_001307796.1:p.Arg152=
NM_001320868.1:c.118C=	NP_001307797.1:p.Arg40=
NM_001320868.2:c.118C=	NP_001307797.1:p.Arg40=
NM_001320869.1:c.193C=	NP_001307798.1:p.Arg65=
NM_001320869.2:c.193C=	NP_001307798.1:p.Arg65=
NM_014297.3:c.487C=	NP_055112.2:p.Arg163=
NM_014297.4:c.487C=	NP_055112.2:p.Arg163=
ENST00000292147.6:c.487C=	ENSP00000292147.1:p.Arg163=
ENST00000594342.5:c.*50C=	ENSP00000469652.1:n.*50C=
ENST00000598330.1:c.*50C=	ENSP00000469219.1:n.*50C=
ENST00000600651.5:c.487C=	ENSP00000469037.1:p.Arg163=
XM_005258687.2:c.406C=	XP_005258744.1:p.Arg136=
XM_005258687.4:c.406C=	XP_005258744.1:p.Arg136=
XM_005258688.2:c.118C=	XP_005258745.1:p.Arg40=
XM_011526685.1:c.227-2591C=	XP_011524987.1:n.227-2591C=