Canonical Allele Identifier: CA497762965
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs2151824890
gnomAD v4: 17-8086155-T-C
MyVariant Identifiers: chr17:g.7989473T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086155T>C , CM000679.2:g.8086155T>C GRCh38
NC_000017.10:g.7989473T>C , CM000679.1:g.7989473T>C GRCh37
NC_000017.9:g.7930198T>C NCBI36
NG_007099.1:g.6549A>G
NG_007099.2:g.6562A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.213A>G MANE Select ENSP00000497784.1:p.Lys71=
ENST00000319144.4:c.213A>G ENSP00000315167.4:p.Lys71=
NM_001139.2:c.213A>G NP_001130.1:p.Lys71=
NM_001139.3:c.213A>G MANE Select NP_001130.1:p.Lys71=