Canonical Allele Identifier: CA308740635
Community Standard Title: NM_014297.5(ETHE1):c.712+181A>G
Gene: ETHE1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.43507763T>C , CM000681.2:g.43507763T>C GRCh38
NC_000019.9:g.44011915T>C , CM000681.1:g.44011915T>C GRCh37
NC_000019.8:g.48703755T>C NCBI36
NG_008141.1:g.24482A>G

Transcript Alleles

HGVS Amino-acid Change
NM_014297.5:c.712+181A>G MANE Select NP_055112.2:n.712+181A>G
ENST00000292147.7:c.712+181A>G MANE Select ENSP00000292147.1:n.712+181A>G
NM_001320867.1:c.679+181A>G NP_001307796.1:n.679+181A>G
NM_001320867.2:c.679+181A>G NP_001307796.1:n.679+181A>G
NM_001320868.1:c.343+181A>G NP_001307797.1:n.343+181A>G
NM_001320868.2:c.343+181A>G NP_001307797.1:n.343+181A>G
NM_001320869.1:c.418+181A>G NP_001307798.1:n.418+181A>G
NM_001320869.2:c.418+181A>G NP_001307798.1:n.418+181A>G
NM_014297.3:c.712+181A>G NP_055112.2:n.712+181A>G
NM_014297.4:c.712+181A>G NP_055112.2:n.712+181A>G
ENST00000292147.6:c.712+181A>G ENSP00000292147.1:n.712+181A>G
ENST00000594342.5:c.*275+181A>G ENSP00000469652.1:n.*275+181A>G
ENST00000598330.1:c.*456A>G ENSP00000469219.1:n.*456A>G
ENST00000600651.5:c.*110A>G ENSP00000469037.1:n.*110A>G
XM_005258687.2:c.631+181A>G XP_005258744.1:n.631+181A>G
XM_005258687.4:c.631+181A>G XP_005258744.1:n.631+181A>G
XM_005258688.2:c.343+181A>G XP_005258745.1:n.343+181A>G
XM_011526685.1:c.433+181A>G XP_011524987.1:n.433+181A>G
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