Canonical Allele Identifier: CA9487793

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508048G>A , CM000681.2:g.43508048G>A	GRCh38
NC_000019.9:g.44012200G>A , CM000681.1:g.44012200G>A	GRCh37
NC_000019.8:g.48704040G>A	NCBI36
NG_008141.1:g.24197C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.608C>T MANE Select	NP_055112.2:p.Ser203Phe
ENST00000292147.7:c.608C>T MANE Select	ENSP00000292147.1:p.Ser203Phe
NM_001320867.1:c.575C>T	NP_001307796.1:p.Ser192Phe
NM_001320867.2:c.575C>T	NP_001307796.1:p.Ser192Phe
NM_001320868.1:c.239C>T	NP_001307797.1:p.Ser80Phe
NM_001320868.2:c.239C>T	NP_001307797.1:p.Ser80Phe
NM_001320869.1:c.314C>T	NP_001307798.1:p.Ser105Phe
NM_001320869.2:c.314C>T	NP_001307798.1:p.Ser105Phe
NM_014297.3:c.608C>T	NP_055112.2:p.Ser203Phe
NM_014297.4:c.608C>T	NP_055112.2:p.Ser203Phe
ENST00000292147.6:c.608C>T	ENSP00000292147.1:p.Ser203Phe
ENST00000594342.5:c.*171C>T	ENSP00000469652.1:n.*171C>T
ENST00000598330.1:c.*171C>T	ENSP00000469219.1:n.*171C>T
ENST00000600651.5:c.608C>T	ENSP00000469037.1:p.Ser203Phe
XM_005258687.2:c.527C>T	XP_005258744.1:p.Ser176Phe
XM_005258687.4:c.527C>T	XP_005258744.1:p.Ser176Phe
XM_005258688.2:c.239C>T	XP_005258745.1:p.Ser80Phe
XM_011526685.1:c.329C>T	XP_011524987.1:p.Ser110Phe