Canonical Allele Identifier: CA10652049
Community Standard Title: NM_014297.5(ETHE1):c.*55G>T
Gene: ETHE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43506795C>A , CM000681.2:g.43506795C>A GRCh38
NC_000019.9:g.44010947C>A , CM000681.1:g.44010947C>A GRCh37
NC_000019.8:g.48702787C>A NCBI36
NG_008141.1:g.25450G>T

Transcript Alleles

HGVS Amino-acid Change
NM_014297.5:c.*55G>T MANE Select NP_055112.2:n.*55G>T
ENST00000292147.7:c.*55G>T MANE Select ENSP00000292147.1:n.*55G>T
NM_001320867.1:c.*55G>T NP_001307796.1:n.*55G>T
NM_001320867.2:c.*55G>T NP_001307796.1:n.*55G>T
NM_001320868.1:c.*55G>T NP_001307797.1:n.*55G>T
NM_001320868.2:c.*55G>T NP_001307797.1:n.*55G>T
NM_001320869.1:c.*55G>T NP_001307798.1:n.*55G>T
NM_001320869.2:c.*55G>T NP_001307798.1:n.*55G>T
NM_014297.3:c.*55G>T NP_055112.2:n.*55G>T
NM_014297.4:c.*55G>T NP_055112.2:n.*55G>T
ENST00000292147.6:c.*55G>T ENSP00000292147.1:n.*55G>T
ENST00000594342.5:c.*383G>T ENSP00000469652.1:n.*383G>T
XM_005258687.2:c.*55G>T XP_005258744.1:n.*55G>T
XM_005258687.4:c.*55G>T XP_005258744.1:n.*55G>T
XM_005258688.2:c.*55G>T XP_005258745.1:n.*55G>T
XM_011526685.1:c.*55G>T XP_011524987.1:n.*55G>T
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