Canonical Allele Identifier: CA497759465
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1262809439
gnomAD v2: 17-7979651-C-A
gnomAD v4: 17-8076333-C-A
MyVariant Identifiers: chr17:g.7979651C>A (hg19) chr17:g.8076333C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8076333C>A , CM000679.2:g.8076333C>A GRCh38
NC_000017.10:g.7979651C>A , CM000679.1:g.7979651C>A GRCh37
NC_000017.9:g.7920376C>A NCBI36
NG_007099.1:g.16371G>T
NG_007099.2:g.16384G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000647874.1:c.1374G>T MANE Select ENSP00000497784.1:p.Leu458=
ENST00000649809.1:c.438G>T ENSP00000496845.1:p.Leu146=
ENST00000319144.4:c.1374G>T ENSP00000315167.4:p.Leu458=
ENST00000577351.5:n.321G>T
ENST00000583276.5:n.758G>T
ENST00000584116.1:n.630G>T
NM_001139.2:c.1374G>T NP_001130.1:p.Leu458=
NM_001139.3:c.1374G>T MANE Select NP_001130.1:p.Leu458=
Search 100 bp 5'
Search 100 bp 3'