Canonical Allele Identifier: CA507737082

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508035C>T , CM000681.2:g.43508035C>T	GRCh38
NC_000019.9:g.44012187C>T , CM000681.1:g.44012187C>T	GRCh37
NC_000019.8:g.48704027C>T	NCBI36
NG_008141.1:g.24210G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.621G>A MANE Select	NP_055112.2:p.Glu207=
ENST00000292147.7:c.621G>A MANE Select	ENSP00000292147.1:p.Glu207=
NM_001320867.1:c.588G>A	NP_001307796.1:p.Glu196=
NM_001320867.2:c.588G>A	NP_001307796.1:p.Glu196=
NM_001320868.1:c.252G>A	NP_001307797.1:p.Glu84=
NM_001320868.2:c.252G>A	NP_001307797.1:p.Glu84=
NM_001320869.1:c.327G>A	NP_001307798.1:p.Glu109=
NM_001320869.2:c.327G>A	NP_001307798.1:p.Glu109=
NM_014297.3:c.621G>A	NP_055112.2:p.Glu207=
NM_014297.4:c.621G>A	NP_055112.2:p.Glu207=
ENST00000292147.6:c.621G>A	ENSP00000292147.1:p.Glu207=
ENST00000594342.5:c.*184G>A	ENSP00000469652.1:n.*184G>A
ENST00000598330.1:c.*184G>A	ENSP00000469219.1:n.*184G>A
ENST00000600651.5:c.621G>A	ENSP00000469037.1:p.Glu207=
XM_005258687.2:c.540G>A	XP_005258744.1:p.Glu180=
XM_005258687.4:c.540G>A	XP_005258744.1:p.Glu180=
XM_005258688.2:c.252G>A	XP_005258745.1:p.Glu84=
XM_011526685.1:c.342G>A	XP_011524987.1:p.Glu114=