Canonical Allele Identifier: CA115479
Gene: ETHE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2317
ClinVar RCV Id: RCV000002407
dbSNP Id: rs28940289

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43511455G>A , CM000681.2:g.43511455G>A GRCh38
NC_000019.9:g.44015607G>A , CM000681.1:g.44015607G>A GRCh37
NC_000019.8:g.48707447G>A NCBI36
NG_008141.1:g.20790C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000292147.7:c.487C>T MANE Select ENSP00000292147.1:p.Arg163Trp
ENST00000292147.6:c.487C>T ENSP00000292147.1:p.Arg163Trp
ENST00000594342.5:c.*50C>T ENSP00000469652.1:n.*50C>T
ENST00000598330.1:c.*50C>T ENSP00000469219.1:n.*50C>T
ENST00000600651.5:c.487C>T ENSP00000469037.1:p.Arg163Trp
NM_014297.3:c.487C>T NP_055112.2:p.Arg163Trp
XM_005258687.2:c.406C>T XP_005258744.1:p.Arg136Trp
XM_005258688.2:c.118C>T XP_005258745.1:p.Arg40Trp
XM_011526685.1:c.227-2591C>T XP_011524987.1:n.227-2591C>T
NM_001320867.1:c.454C>T NP_001307796.1:p.Arg152Trp
NM_001320868.1:c.118C>T NP_001307797.1:p.Arg40Trp
NM_001320869.1:c.193C>T NP_001307798.1:p.Arg65Trp
NM_014297.4:c.487C>T NP_055112.2:p.Arg163Trp
XM_005258687.4:c.406C>T XP_005258744.1:p.Arg136Trp
NM_014297.5:c.487C>T MANE Select NP_055112.2:p.Arg163Trp
NM_001320867.2:c.454C>T NP_001307796.1:p.Arg152Trp
NM_001320868.2:c.118C>T NP_001307797.1:p.Arg40Trp
NM_001320869.2:c.193C>T NP_001307798.1:p.Arg65Trp