Canonical Allele Identifier: CA8333402
Gene: ALOX12 HGNC NCBI
ALOX12-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1247877
ClinVar RCV Id: RCV001644329
dbSNP Id: rs1042357
ExAC: 17:6905061 T / G
gnomAD v2: 17-6905061-T-G
gnomAD v3: 17-7001742-T-G
gnomAD v4: 17-7001742-T-G
MyVariant Identifiers: chr17:g.6905061T>G (hg19) chr17:g.7001742T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7001742T>G , CM000679.2:g.7001742T>G GRCh38
NC_000017.10:g.6905061T>G , CM000679.1:g.6905061T>G GRCh37
NC_000017.9:g.6845785T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000251535.11:c.1092T>G (ALOX12) MANE Select ENSP00000251535.6:p.Thr364=
ENST00000251535.10:c.1092T>G (ALOX12) ENSP00000251535.6:p.Thr364=
NM_000697.2:c.1092T>G (ALOX12) NP_000688.2:p.Thr364=
NR_040089.1:n.233+8054A>C (ALOX12-AS1)
XM_011523780.1:c.1242T>G (ALOX12) XP_011522082.1:p.Thr414=
XM_011523780.2:c.1242T>G (ALOX12) XP_011522082.1:p.Thr414=
NM_000697.3:c.1092T>G (ALOX12) MANE Select NP_000688.2:p.Thr364=
Search 100 bp 5'
Search 100 bp 3'