Canonical Allele Identifier: CA406175023

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508034C>A , CM000681.2:g.43508034C>A	GRCh38
NC_000019.9:g.44012186C>A , CM000681.1:g.44012186C>A	GRCh37
NC_000019.8:g.48704026C>A	NCBI36
NG_008141.1:g.24211G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.622G>T MANE Select	NP_055112.2:p.Glu208Ter
ENST00000292147.7:c.622G>T MANE Select	ENSP00000292147.1:p.Glu208Ter
NM_001320867.1:c.589G>T	NP_001307796.1:p.Glu197Ter
NM_001320867.2:c.589G>T	NP_001307796.1:p.Glu197Ter
NM_001320868.1:c.253G>T	NP_001307797.1:p.Glu85Ter
NM_001320868.2:c.253G>T	NP_001307797.1:p.Glu85Ter
NM_001320869.1:c.328G>T	NP_001307798.1:p.Glu110Ter
NM_001320869.2:c.328G>T	NP_001307798.1:p.Glu110Ter
NM_014297.3:c.622G>T	NP_055112.2:p.Glu208Ter
NM_014297.4:c.622G>T	NP_055112.2:p.Glu208Ter
ENST00000292147.6:c.622G>T	ENSP00000292147.1:p.Glu208Ter
ENST00000594342.5:c.*185G>T	ENSP00000469652.1:n.*185G>T
ENST00000598330.1:c.*185G>T	ENSP00000469219.1:n.*185G>T
ENST00000600651.5:c.622G>T	ENSP00000469037.1:p.Glu208Ter
XM_005258687.2:c.541G>T	XP_005258744.1:p.Glu181Ter
XM_005258687.4:c.541G>T	XP_005258744.1:p.Glu181Ter
XM_005258688.2:c.253G>T	XP_005258745.1:p.Glu85Ter
XM_011526685.1:c.343G>T	XP_011524987.1:p.Glu115Ter