Canonical Allele Identifier: CA269973
Community Standard Title: NM_017415.3(KLHL3):c.230C>A (p.Ala77Glu)
Gene: KLHL3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.137709761G>T , CM000667.2:g.137709761G>T GRCh38
NC_000005.9:g.137045450G>T , CM000667.1:g.137045450G>T GRCh37
NC_000005.8:g.137073349G>T NCBI36
NG_032569.1:g.31330C>A

Transcript Alleles

HGVS Amino-acid Change
NM_017415.3:c.230C>A MANE Select NP_059111.2:p.Ala77Glu
ENST00000309755.9:c.230C>A MANE Select ENSP00000312397.4:p.Ala77Glu
NM_001257194.1:c.134C>A NP_001244123.1:p.Ala45Glu
NM_017415.2:c.230C>A NP_059111.2:p.Ala77Glu
ENST00000309755.8:c.230C>A ENSP00000312397.4:p.Ala77Glu
ENST00000505853.1:c.110C>A ENSP00000426173.1:p.Ala37Glu
ENST00000508657.5:c.134C>A ENSP00000422099.1:p.Ala45Glu
ENST00000512977.1:n.367C>A
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