Canonical Allele Identifier: CA397989539
Gene: ALOX12B HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7978931G>C (hg19) chr17:g.8075613G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075613G>C , CM000679.2:g.8075613G>C GRCh38
NC_000017.10:g.7978931G>C , CM000679.1:g.7978931G>C GRCh37
NC_000017.9:g.7919656G>C NCBI36
NG_007099.1:g.17091C>G
NG_007099.2:g.17104C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1636C>G MANE Select ENSP00000497784.1:p.Leu546Val
ENST00000649809.1:c.700C>G ENSP00000496845.1:p.Leu234Val
ENST00000319144.4:c.1636C>G ENSP00000315167.4:p.Leu546Val
ENST00000577351.5:n.479+562C>G
NM_001139.2:c.1636C>G NP_001130.1:p.Leu546Val
NM_001139.3:c.1636C>G MANE Select NP_001130.1:p.Leu546Val
Search 100 bp 5'
Search 100 bp 3'