Canonical Allele Identifier: CA2326387173
Gene: ELL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18508083T= , CM000681.2:g.18508083T= GRCh38
NC_000019.9:g.18618893T= , CM000681.1:g.18618893T= GRCh37
NC_000019.8:g.18479893T= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262809.9:c.135+13838A= MANE Select ENSP00000262809.3:n.135+13838A=
ENST00000262809.8:c.135+13838A= ENSP00000262809.3:n.135+13838A=
ENST00000594635.6:c.135+13838A= ENSP00000475681.2:n.135+13838A=
ENST00000596915.1:n.147+13838A=
NM_006532.3:c.135+13838A= NP_006523.1:n.135+13838A=
XM_011528330.1:c.135+13838A= XP_011526632.1:n.135+13838A=
XR_936207.1:n.209+13838A=
XM_011528330.3:c.135+13838A= XP_011526632.2:n.135+13838A=
XM_017027335.1:c.-385+13838A= XP_016882824.1:n.-385+13838A=
XR_001753769.2:n.140+13838A=
XR_936207.3:n.140+13838A=
NM_006532.4:c.135+13838A= MANE Select NP_006523.1:n.135+13838A=
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