Canonical Allele Identifier: CA8367247
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs746502729
ExAC: 17:7978968 C / T
gnomAD v2: 17-7978968-C-T
gnomAD v3: 17-8075650-C-T
gnomAD v4: 17-8075650-C-T
MyVariant Identifiers: chr17:g.7978968C>T (hg19) chr17:g.8075650C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075650C>T , CM000679.2:g.8075650C>T GRCh38
NC_000017.10:g.7978968C>T , CM000679.1:g.7978968C>T GRCh37
NC_000017.9:g.7919693C>T NCBI36
NG_007099.1:g.17054G>A
NG_007099.2:g.17067G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1599G>A MANE Select ENSP00000497784.1:p.Leu533=
ENST00000649809.1:c.663G>A ENSP00000496845.1:p.Leu221=
ENST00000319144.4:c.1599G>A ENSP00000315167.4:p.Leu533=
ENST00000577351.5:n.479+525G>A
NM_001139.2:c.1599G>A NP_001130.1:p.Leu533=
NM_001139.3:c.1599G>A MANE Select NP_001130.1:p.Leu533=
Search 100 bp 5'
Search 100 bp 3'