Canonical Allele Identifier: CA287552339
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs550321868
gnomAD v2: 17-7989139-T-C
gnomAD v3: 17-8085821-T-C
gnomAD v4: 17-8085821-T-C
MyVariant Identifiers: chr17:g.7989139T>C (hg19) chr17:g.8085821T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8085821T>C , CM000679.2:g.8085821T>C GRCh38
NC_000017.10:g.7989139T>C , CM000679.1:g.7989139T>C GRCh37
NC_000017.9:g.7929864T>C NCBI36
NG_007099.1:g.6883A>G
NG_007099.2:g.6896A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.352+195A>G MANE Select ENSP00000497784.1:n.352+195A>G
ENST00000319144.4:c.352+195A>G ENSP00000315167.4:n.352+195A>G
NM_001139.2:c.352+195A>G NP_001130.1:n.352+195A>G
NM_001139.3:c.352+195A>G MANE Select NP_001130.1:n.352+195A>G
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