Canonical Allele Identifier: CA9487725

Gene: ETHE1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.43506856A>C , CM000681.2:g.43506856A>C	GRCh38
NC_000019.9:g.44011008A>C , CM000681.1:g.44011008A>C	GRCh37
NC_000019.8:g.48702848A>C	NCBI36
NG_008141.1:g.25389T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292147.7:c.759T>G MANE Select	ENSP00000292147.1:p.Thr253=
ENST00000292147.6:c.759T>G	ENSP00000292147.1:p.Thr253=
ENST00000594342.5:c.*322T>G	ENSP00000469652.1:n.*322T>G
NM_014297.3:c.759T>G	NP_055112.2:p.Thr253=
XM_005258687.2:c.678T>G	XP_005258744.1:p.Thr226=
XM_005258688.2:c.390T>G	XP_005258745.1:p.Thr130=
XM_011526685.1:c.480T>G	XP_011524987.1:p.Thr160=
NM_001320867.1:c.726T>G	NP_001307796.1:p.Thr242=
NM_001320868.1:c.390T>G	NP_001307797.1:p.Thr130=
NM_001320869.1:c.465T>G	NP_001307798.1:p.Thr155=
NM_014297.4:c.759T>G	NP_055112.2:p.Thr253=
XM_005258687.4:c.678T>G	XP_005258744.1:p.Thr226=
NM_014297.5:c.759T>G MANE Select	NP_055112.2:p.Thr253=
NM_001320867.2:c.726T>G	NP_001307796.1:p.Thr242=
NM_001320868.2:c.390T>G	NP_001307797.1:p.Thr130=
NM_001320869.2:c.465T>G	NP_001307798.1:p.Thr155=