Canonical Allele Identifier: CA9487852

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511467G>A , CM000681.2:g.43511467G>A	GRCh38
NC_000019.9:g.44015619G>A , CM000681.1:g.44015619G>A	GRCh37
NC_000019.8:g.48707459G>A	NCBI36
NG_008141.1:g.20778C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.475C>T MANE Select	NP_055112.2:p.Arg159Cys
ENST00000292147.7:c.475C>T MANE Select	ENSP00000292147.1:p.Arg159Cys
NM_001320867.1:c.442C>T	NP_001307796.1:p.Arg148Cys
NM_001320867.2:c.442C>T	NP_001307796.1:p.Arg148Cys
NM_001320868.1:c.106C>T	NP_001307797.1:p.Arg36Cys
NM_001320868.2:c.106C>T	NP_001307797.1:p.Arg36Cys
NM_001320869.1:c.181C>T	NP_001307798.1:p.Arg61Cys
NM_001320869.2:c.181C>T	NP_001307798.1:p.Arg61Cys
NM_014297.3:c.475C>T	NP_055112.2:p.Arg159Cys
NM_014297.4:c.475C>T	NP_055112.2:p.Arg159Cys
ENST00000292147.6:c.475C>T	ENSP00000292147.1:p.Arg159Cys
ENST00000594342.5:c.*38C>T	ENSP00000469652.1:n.*38C>T
ENST00000598330.1:c.*38C>T	ENSP00000469219.1:n.*38C>T
ENST00000600651.5:c.475C>T	ENSP00000469037.1:p.Arg159Cys
XM_005258687.2:c.394C>T	XP_005258744.1:p.Arg132Cys
XM_005258687.4:c.394C>T	XP_005258744.1:p.Arg132Cys
XM_005258688.2:c.106C>T	XP_005258745.1:p.Arg36Cys
XM_011526685.1:c.227-2603C>T	XP_011524987.1:n.227-2603C>T