Canonical Allele Identifier: CA2337531847
Gene: ETHE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43510644T= , CM000681.2:g.43510644T= GRCh38
NC_000019.9:g.44014796T= , CM000681.1:g.44014796T= GRCh37
NC_000019.8:g.48706636T= NCBI36
NG_008141.1:g.21601A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000292147.7:c.505+793A= MANE Select ENSP00000292147.1:n.505+793A=
ENST00000292147.6:c.505+793A= ENSP00000292147.1:n.505+793A=
ENST00000594342.5:c.*68+793A= ENSP00000469652.1:n.*68+793A=
ENST00000598330.1:c.*68+793A= ENSP00000469219.1:n.*68+793A=
ENST00000600651.5:c.505+793A= ENSP00000469037.1:n.505+793A=
NM_014297.3:c.505+793A= NP_055112.2:n.505+793A=
XM_005258687.2:c.424+793A= XP_005258744.1:n.424+793A=
XM_005258688.2:c.136+793A= XP_005258745.1:n.136+793A=
XM_011526685.1:c.227-1780A= XP_011524987.1:n.227-1780A=
NM_001320867.1:c.472+793A= NP_001307796.1:n.472+793A=
NM_001320868.1:c.136+793A= NP_001307797.1:n.136+793A=
NM_001320869.1:c.211+793A= NP_001307798.1:n.211+793A=
NM_014297.4:c.505+793A= NP_055112.2:n.505+793A=
XM_005258687.4:c.424+793A= XP_005258744.1:n.424+793A=
NM_014297.5:c.505+793A= MANE Select NP_055112.2:n.505+793A=
NM_001320867.2:c.472+793A= NP_001307796.1:n.472+793A=
NM_001320868.2:c.136+793A= NP_001307797.1:n.136+793A=
NM_001320869.2:c.211+793A= NP_001307798.1:n.211+793A=
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