Canonical Allele Identifier: CA507737198

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511459A>G , CM000681.2:g.43511459A>G	GRCh38
NC_000019.9:g.44015611A>G , CM000681.1:g.44015611A>G	GRCh37
NC_000019.8:g.48707451A>G	NCBI36
NG_008141.1:g.20786T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.483T>C MANE Select	ENSP00000292147.1:p.Cys161=
ENST00000292147.6:c.483T>C	ENSP00000292147.1:p.Cys161=
ENST00000594342.5:c.*46T>C	ENSP00000469652.1:n.*46T>C
ENST00000598330.1:c.*46T>C	ENSP00000469219.1:n.*46T>C
ENST00000600651.5:c.483T>C	ENSP00000469037.1:p.Cys161=
NM_014297.3:c.483T>C	NP_055112.2:p.Cys161=
XM_005258687.2:c.402T>C	XP_005258744.1:p.Cys134=
XM_005258688.2:c.114T>C	XP_005258745.1:p.Cys38=
XM_011526685.1:c.227-2595T>C	XP_011524987.1:n.227-2595T>C
NM_001320867.1:c.450T>C	NP_001307796.1:p.Cys150=
NM_001320868.1:c.114T>C	NP_001307797.1:p.Cys38=
NM_001320869.1:c.189T>C	NP_001307798.1:p.Cys63=
NM_014297.4:c.483T>C	NP_055112.2:p.Cys161=
XM_005258687.4:c.402T>C	XP_005258744.1:p.Cys134=
NM_014297.5:c.483T>C MANE Select	NP_055112.2:p.Cys161=
NM_001320867.2:c.450T>C	NP_001307796.1:p.Cys150=
NM_001320868.2:c.114T>C	NP_001307797.1:p.Cys38=
NM_001320869.2:c.189T>C	NP_001307798.1:p.Cys63=