Canonical Allele Identifier: CA8367258
Gene: ALOX12B HGNC NCBI

Linked Data

ClinVar Variation Id: 1908100
ClinVar RCV Id: RCV002581302
dbSNP Id: rs762230828
ExAC: 17:7978995 G / A
gnomAD v2: 17-7978995-G-A
gnomAD v3: 17-8075677-G-A
gnomAD v4: 17-8075677-G-A
MyVariant Identifiers: chr17:g.7978995G>A (hg19) chr17:g.8075677G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075677G>A , CM000679.2:g.8075677G>A GRCh38
NC_000017.10:g.7978995G>A , CM000679.1:g.7978995G>A GRCh37
NC_000017.9:g.7919720G>A NCBI36
NG_007099.1:g.17027C>T
NG_007099.2:g.17040C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1572C>T MANE Select ENSP00000497784.1:p.Asp524=
ENST00000649809.1:c.636C>T ENSP00000496845.1:p.Asp212=
ENST00000319144.4:c.1572C>T ENSP00000315167.4:p.Asp524=
ENST00000577351.5:n.479+498C>T
NM_001139.2:c.1572C>T NP_001130.1:p.Asp524=
NM_001139.3:c.1572C>T MANE Select NP_001130.1:p.Asp524=
Search 100 bp 5'
Search 100 bp 3'