Canonical Allele Identifier: CA287552356
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs973670262
gnomAD v4: 17-8085886-A-G
MyVariant Identifiers: chr17:g.7989204A>G (hg19) chr17:g.8085886A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8085886A>G , CM000679.2:g.8085886A>G GRCh38
NC_000017.10:g.7989204A>G , CM000679.1:g.7989204A>G GRCh37
NC_000017.9:g.7929929A>G NCBI36
NG_007099.1:g.6818T>C
NG_007099.2:g.6831T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.352+130T>C MANE Select ENSP00000497784.1:n.352+130T>C
ENST00000319144.4:c.352+130T>C ENSP00000315167.4:n.352+130T>C
NM_001139.2:c.352+130T>C NP_001130.1:n.352+130T>C
NM_001139.3:c.352+130T>C MANE Select NP_001130.1:n.352+130T>C
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