Canonical Allele Identifier: CA406175075

Gene: ETHE1

Linked Data

• MyVariant Identifiers: chr19:g.44012210A>T (hg19) ; chr19:g.43508058A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508058A>T , CM000681.2:g.43508058A>T	GRCh38
NC_000019.9:g.44012210A>T , CM000681.1:g.44012210A>T	GRCh37
NC_000019.8:g.48704050A>T	NCBI36
NG_008141.1:g.24187T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.598T>A MANE Select	ENSP00000292147.1:p.Phe200Ile
ENST00000292147.6:c.598T>A	ENSP00000292147.1:p.Phe200Ile
ENST00000594342.5:c.*161T>A	ENSP00000469652.1:n.*161T>A
ENST00000598330.1:c.*161T>A	ENSP00000469219.1:n.*161T>A
ENST00000600651.5:c.598T>A	ENSP00000469037.1:p.Phe200Ile
NM_014297.3:c.598T>A	NP_055112.2:p.Phe200Ile
XM_005258687.2:c.517T>A	XP_005258744.1:p.Phe173Ile
XM_005258688.2:c.229T>A	XP_005258745.1:p.Phe77Ile
XM_011526685.1:c.319T>A	XP_011524987.1:p.Phe107Ile
NM_001320867.1:c.565T>A	NP_001307796.1:p.Phe189Ile
NM_001320868.1:c.229T>A	NP_001307797.1:p.Phe77Ile
NM_001320869.1:c.304T>A	NP_001307798.1:p.Phe102Ile
NM_014297.4:c.598T>A	NP_055112.2:p.Phe200Ile
XM_005258687.4:c.517T>A	XP_005258744.1:p.Phe173Ile
NM_014297.5:c.598T>A MANE Select	NP_055112.2:p.Phe200Ile
NM_001320867.2:c.565T>A	NP_001307796.1:p.Phe189Ile
NM_001320868.2:c.229T>A	NP_001307797.1:p.Phe77Ile
NM_001320869.2:c.304T>A	NP_001307798.1:p.Phe102Ile