Canonical Allele Identifier: CA507737246

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43511531T>C , CM000681.2:g.43511531T>C	GRCh38
NC_000019.9:g.44015683T>C , CM000681.1:g.44015683T>C	GRCh37
NC_000019.8:g.48707523T>C	NCBI36
NG_008141.1:g.20714A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014297.5:c.411A>G MANE Select	NP_055112.2:p.Pro137=
ENST00000292147.7:c.411A>G MANE Select	ENSP00000292147.1:p.Pro137=
NM_001320867.1:c.378A>G	NP_001307796.1:p.Pro126=
NM_001320867.2:c.378A>G	NP_001307796.1:p.Pro126=
NM_001320868.1:c.42A>G	NP_001307797.1:p.Pro14=
NM_001320868.2:c.42A>G	NP_001307797.1:p.Pro14=
NM_001320869.1:c.117A>G	NP_001307798.1:p.Pro39=
NM_001320869.2:c.117A>G	NP_001307798.1:p.Pro39=
NM_014297.3:c.411A>G	NP_055112.2:p.Pro137=
NM_014297.4:c.411A>G	NP_055112.2:p.Pro137=
ENST00000292147.6:c.411A>G	ENSP00000292147.1:p.Pro137=
ENST00000594342.5:c.262A>G	ENSP00000469652.1:p.Arg88Gly
ENST00000598330.1:c.262A>G	ENSP00000469219.1:p.Arg88Gly
ENST00000600651.5:c.411A>G	ENSP00000469037.1:p.Pro137=
ENST00000602138.1:c.*415A>G	ENSP00000468964.1:n.*415A>G
XM_005258687.2:c.330A>G	XP_005258744.1:p.Pro110=
XM_005258687.4:c.330A>G	XP_005258744.1:p.Pro110=
XM_005258688.2:c.42A>G	XP_005258745.1:p.Pro14=
XM_011526685.1:c.227-2667A>G	XP_011524987.1:n.227-2667A>G