Canonical Allele Identifier: CA8333159
Gene: ALOX12 HGNC NCBI
ALOX12-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs756736044
ExAC: 17:6900333 GC / G
gnomAD v2: 17-6900333-GC-G
gnomAD v4: 17-6997014-GC-G
MyVariant Identifiers: chr17:g.6900334del (hg19) chr17:g.6997015del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.6997017del , CM000679.2:g.6997017del GRCh38
NC_000017.10:g.6900336del , CM000679.1:g.6900336del GRCh37
NC_000017.9:g.6841060del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000251535.11:c.327del (ALOX12) MANE Select ENSP00000251535.6:p.Glu110ArgfsTer23
ENST00000251535.10:c.327del (ALOX12) ENSP00000251535.6:p.Glu110ArgfsTer23
ENST00000480801.1:c.36del (ALOX12) ENSP00000467033.1:p.Glu13ArgfsTer23
NM_000697.2:c.327del (ALOX12) NP_000688.2:p.Glu110ArgfsTer23
NR_040089.1:n.234-11475del (ALOX12-AS1)
XM_011523780.1:c.684del (ALOX12) XP_011522082.1:p.Glu229ArgfsTer23
XM_011523780.2:c.684del (ALOX12) XP_011522082.1:p.Glu229ArgfsTer23
NM_000697.3:c.327del (ALOX12) MANE Select NP_000688.2:p.Glu110ArgfsTer23
Search 100 bp 5'
Search 100 bp 3'