Canonical Allele Identifier: CA397999588
Gene: ALOX12B HGNC NCBI

Linked Data

gnomAD v4: 17-8086118-A-G
MyVariant Identifiers: chr17:g.7989436A>G (hg19) chr17:g.8086118A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086118A>G , CM000679.2:g.8086118A>G GRCh38
NC_000017.10:g.7989436A>G , CM000679.1:g.7989436A>G GRCh37
NC_000017.9:g.7930161A>G NCBI36
NG_007099.1:g.6586T>C
NG_007099.2:g.6599T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.250T>C MANE Select ENSP00000497784.1:p.Cys84Arg
ENST00000319144.4:c.250T>C ENSP00000315167.4:p.Cys84Arg
NM_001139.2:c.250T>C NP_001130.1:p.Cys84Arg
NM_001139.3:c.250T>C MANE Select NP_001130.1:p.Cys84Arg
Search 100 bp 5'
Search 100 bp 3'