Canonical Allele Identifier: CA2337532107
Gene: ETHE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43511264C= , CM000681.2:g.43511264C= GRCh38
NC_000019.9:g.44015416C= , CM000681.1:g.44015416C= GRCh37
NC_000019.8:g.48707256C= NCBI36
NG_008141.1:g.20981G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000292147.7:c.505+173G= MANE Select ENSP00000292147.1:n.505+173G=
ENST00000292147.6:c.505+173G= ENSP00000292147.1:n.505+173G=
ENST00000594342.5:c.*68+173G= ENSP00000469652.1:n.*68+173G=
ENST00000598330.1:c.*68+173G= ENSP00000469219.1:n.*68+173G=
ENST00000600651.5:c.505+173G= ENSP00000469037.1:n.505+173G=
NM_014297.3:c.505+173G= NP_055112.2:n.505+173G=
XM_005258687.2:c.424+173G= XP_005258744.1:n.424+173G=
XM_005258688.2:c.136+173G= XP_005258745.1:n.136+173G=
XM_011526685.1:c.227-2400G= XP_011524987.1:n.227-2400G=
NM_001320867.1:c.472+173G= NP_001307796.1:n.472+173G=
NM_001320868.1:c.136+173G= NP_001307797.1:n.136+173G=
NM_001320869.1:c.211+173G= NP_001307798.1:n.211+173G=
NM_014297.4:c.505+173G= NP_055112.2:n.505+173G=
XM_005258687.4:c.424+173G= XP_005258744.1:n.424+173G=
NM_014297.5:c.505+173G= MANE Select NP_055112.2:n.505+173G=
NM_001320867.2:c.472+173G= NP_001307796.1:n.472+173G=
NM_001320868.2:c.136+173G= NP_001307797.1:n.136+173G=
NM_001320869.2:c.211+173G= NP_001307798.1:n.211+173G=
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