Canonical Allele Identifier: CA406175069

Gene: ETHE1

Linked Data

• MyVariant Identifiers: chr19:g.44012208G>T (hg19) ; chr19:g.43508056G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508056G>T , CM000681.2:g.43508056G>T	GRCh38
NC_000019.9:g.44012208G>T , CM000681.1:g.44012208G>T	GRCh37
NC_000019.8:g.48704048G>T	NCBI36
NG_008141.1:g.24189C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.600C>A MANE Select	ENSP00000292147.1:p.Phe200Leu
ENST00000292147.6:c.600C>A	ENSP00000292147.1:p.Phe200Leu
ENST00000594342.5:c.*163C>A	ENSP00000469652.1:n.*163C>A
ENST00000598330.1:c.*163C>A	ENSP00000469219.1:n.*163C>A
ENST00000600651.5:c.600C>A	ENSP00000469037.1:p.Phe200Leu
NM_014297.3:c.600C>A	NP_055112.2:p.Phe200Leu
XM_005258687.2:c.519C>A	XP_005258744.1:p.Phe173Leu
XM_005258688.2:c.231C>A	XP_005258745.1:p.Phe77Leu
XM_011526685.1:c.321C>A	XP_011524987.1:p.Phe107Leu
NM_001320867.1:c.567C>A	NP_001307796.1:p.Phe189Leu
NM_001320868.1:c.231C>A	NP_001307797.1:p.Phe77Leu
NM_001320869.1:c.306C>A	NP_001307798.1:p.Phe102Leu
NM_014297.4:c.600C>A	NP_055112.2:p.Phe200Leu
XM_005258687.4:c.519C>A	XP_005258744.1:p.Phe173Leu
NM_014297.5:c.600C>A MANE Select	NP_055112.2:p.Phe200Leu
NM_001320867.2:c.567C>A	NP_001307796.1:p.Phe189Leu
NM_001320868.2:c.231C>A	NP_001307797.1:p.Phe77Leu
NM_001320869.2:c.306C>A	NP_001307798.1:p.Phe102Leu