Canonical Allele Identifier: CA406175072

Gene: ETHE1

Linked Data

• MyVariant Identifiers: chr19:g.44012209A>G (hg19) ; chr19:g.43508057A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43508057A>G , CM000681.2:g.43508057A>G	GRCh38
NC_000019.9:g.44012209A>G , CM000681.1:g.44012209A>G	GRCh37
NC_000019.8:g.48704049A>G	NCBI36
NG_008141.1:g.24188T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000292147.7:c.599T>C MANE Select	ENSP00000292147.1:p.Phe200Ser
ENST00000292147.6:c.599T>C	ENSP00000292147.1:p.Phe200Ser
ENST00000594342.5:c.*162T>C	ENSP00000469652.1:n.*162T>C
ENST00000598330.1:c.*162T>C	ENSP00000469219.1:n.*162T>C
ENST00000600651.5:c.599T>C	ENSP00000469037.1:p.Phe200Ser
NM_014297.3:c.599T>C	NP_055112.2:p.Phe200Ser
XM_005258687.2:c.518T>C	XP_005258744.1:p.Phe173Ser
XM_005258688.2:c.230T>C	XP_005258745.1:p.Phe77Ser
XM_011526685.1:c.320T>C	XP_011524987.1:p.Phe107Ser
NM_001320867.1:c.566T>C	NP_001307796.1:p.Phe189Ser
NM_001320868.1:c.230T>C	NP_001307797.1:p.Phe77Ser
NM_001320869.1:c.305T>C	NP_001307798.1:p.Phe102Ser
NM_014297.4:c.599T>C	NP_055112.2:p.Phe200Ser
XM_005258687.4:c.518T>C	XP_005258744.1:p.Phe173Ser
NM_014297.5:c.599T>C MANE Select	NP_055112.2:p.Phe200Ser
NM_001320867.2:c.566T>C	NP_001307796.1:p.Phe189Ser
NM_001320868.2:c.230T>C	NP_001307797.1:p.Phe77Ser
NM_001320869.2:c.305T>C	NP_001307798.1:p.Phe102Ser