Canonical Allele Identifier: CA8367267
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs756024083
ExAC: 17:7979031 A / G
gnomAD v2: 17-7979031-A-G
gnomAD v3: 17-8075713-A-G
gnomAD v4: 17-8075713-A-G
MyVariant Identifiers: chr17:g.7979031A>G (hg19) chr17:g.8075713A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075713A>G , CM000679.2:g.8075713A>G GRCh38
NC_000017.10:g.7979031A>G , CM000679.1:g.7979031A>G GRCh37
NC_000017.9:g.7919756A>G NCBI36
NG_007099.1:g.16991T>C
NG_007099.2:g.17004T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1536T>C MANE Select ENSP00000497784.1:p.Tyr512=
ENST00000649809.1:c.600T>C ENSP00000496845.1:p.Tyr200=
ENST00000319144.4:c.1536T>C ENSP00000315167.4:p.Tyr512=
ENST00000577351.5:n.479+462T>C
NM_001139.2:c.1536T>C NP_001130.1:p.Tyr512=
NM_001139.3:c.1536T>C MANE Select NP_001130.1:p.Tyr512=
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