Canonical Allele Identifier: CA8367736
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs542947562
ExAC: 17:7989492 A / T
gnomAD v2: 17-7989492-A-T
gnomAD v3: 17-8086174-A-T
gnomAD v4: 17-8086174-A-T
MyVariant Identifiers: chr17:g.7989492A>T (hg19) chr17:g.8086174A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086174A>T , CM000679.2:g.8086174A>T GRCh38
NC_000017.10:g.7989492A>T , CM000679.1:g.7989492A>T GRCh37
NC_000017.9:g.7930217A>T NCBI36
NG_007099.1:g.6530T>A
NG_007099.2:g.6543T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.194T>A MANE Select ENSP00000497784.1:p.Ile65Asn
ENST00000319144.4:c.194T>A ENSP00000315167.4:p.Ile65Asn
NM_001139.2:c.194T>A NP_001130.1:p.Ile65Asn
NM_001139.3:c.194T>A MANE Select NP_001130.1:p.Ile65Asn
Search 100 bp 5'
Search 100 bp 3'