Canonical Allele Identifier: CA507735624

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43506883G>A , CM000681.2:g.43506883G>A	GRCh38
NC_000019.9:g.44011035G>A , CM000681.1:g.44011035G>A	GRCh37
NC_000019.8:g.48702875G>A	NCBI36
NG_008141.1:g.25362C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.732C>T MANE Select	ENSP00000292147.1:p.Asn244=
ENST00000292147.6:c.732C>T	ENSP00000292147.1:p.Asn244=
ENST00000594342.5:c.*295C>T	ENSP00000469652.1:n.*295C>T
NM_014297.3:c.732C>T	NP_055112.2:p.Asn244=
XM_005258687.2:c.651C>T	XP_005258744.1:p.Asn217=
XM_005258688.2:c.363C>T	XP_005258745.1:p.Asn121=
XM_011526685.1:c.453C>T	XP_011524987.1:p.Asn151=
NM_001320867.1:c.699C>T	NP_001307796.1:p.Asn233=
NM_001320868.1:c.363C>T	NP_001307797.1:p.Asn121=
NM_001320869.1:c.438C>T	NP_001307798.1:p.Asn146=
NM_014297.4:c.732C>T	NP_055112.2:p.Asn244=
XM_005258687.4:c.651C>T	XP_005258744.1:p.Asn217=
NM_014297.5:c.732C>T MANE Select	NP_055112.2:p.Asn244=
NM_001320867.2:c.699C>T	NP_001307796.1:p.Asn233=
NM_001320868.2:c.363C>T	NP_001307797.1:p.Asn121=
NM_001320869.2:c.438C>T	NP_001307798.1:p.Asn146=