Canonical Allele Identifier: CA8367332
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 891852
ClinVar RCV Id: RCV001127395
dbSNP Id: rs374549612
ExAC: 17:7979971 T / G
gnomAD v2: 17-7979971-T-G
gnomAD v3: 17-8076653-T-G
gnomAD v4: 17-8076653-T-G
MyVariant Identifiers: chr17:g.7979971T>G (hg19) chr17:g.8076653T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8076653T>G , CM000679.2:g.8076653T>G GRCh38
NC_000017.10:g.7979971T>G , CM000679.1:g.7979971T>G GRCh37
NC_000017.9:g.7920696T>G NCBI36
NG_007099.1:g.16051A>C
NG_007099.2:g.16064A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1362+4A>C MANE Select ENSP00000497784.1:n.1362+4A>C
ENST00000649809.1:c.426+4A>C ENSP00000496845.1:n.426+4A>C
ENST00000319144.4:c.1362+4A>C ENSP00000315167.4:n.1362+4A>C
ENST00000577351.5:n.309+4A>C
ENST00000583276.5:n.746+4A>C
ENST00000584116.1:n.618+4A>C
NM_001139.2:c.1362+4A>C NP_001130.1:n.1362+4A>C
NM_001139.3:c.1362+4A>C MANE Select NP_001130.1:n.1362+4A>C
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