Canonical Allele Identifier: CA9487859

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511516G>A , CM000681.2:g.43511516G>A	GRCh38
NC_000019.9:g.44015668G>A , CM000681.1:g.44015668G>A	GRCh37
NC_000019.8:g.48707508G>A	NCBI36
NG_008141.1:g.20729C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.426C>T MANE Select	ENSP00000292147.1:p.Phe142=
ENST00000292147.6:c.426C>T	ENSP00000292147.1:p.Phe142=
ENST00000594342.5:c.277C>T	ENSP00000469652.1:p.Arg93Cys
ENST00000598330.1:c.277C>T	ENSP00000469219.1:p.Arg93Cys
ENST00000600651.5:c.426C>T	ENSP00000469037.1:p.Phe142=
ENST00000602138.1:c.*430C>T	ENSP00000468964.1:n.*430C>T
NM_014297.3:c.426C>T	NP_055112.2:p.Phe142=
XM_005258687.2:c.345C>T	XP_005258744.1:p.Phe115=
XM_005258688.2:c.57C>T	XP_005258745.1:p.Phe19=
XM_011526685.1:c.227-2652C>T	XP_011524987.1:n.227-2652C>T
NM_001320867.1:c.393C>T	NP_001307796.1:p.Phe131=
NM_001320868.1:c.57C>T	NP_001307797.1:p.Phe19=
NM_001320869.1:c.132C>T	NP_001307798.1:p.Phe44=
NM_014297.4:c.426C>T	NP_055112.2:p.Phe142=
XM_005258687.4:c.345C>T	XP_005258744.1:p.Phe115=
NM_014297.5:c.426C>T MANE Select	NP_055112.2:p.Phe142=
NM_001320867.2:c.393C>T	NP_001307796.1:p.Phe131=
NM_001320868.2:c.57C>T	NP_001307797.1:p.Phe19=
NM_001320869.2:c.132C>T	NP_001307798.1:p.Phe44=