Canonical Allele Identifier: CA8367177

Gene: ALOX12B

Linked Data

• ClinVar Variation Id: 265039
• ClinVar RCV Id: RCV000255637 ; RCV001289939 ; RCV003155138
• dbSNP Id: rs752509098
• ExAC: 17:7976602 G / T
• gnomAD v2: 17-7976602-G-T
• gnomAD v3: 17-8073284-G-T
• gnomAD v4: 17-8073284-G-T
• MyVariant Identifiers: chr17:g.7976602G>T (hg19) ; chr17:g.8073284G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8073284G>T , CM000679.2:g.8073284G>T	GRCh38
NC_000017.10:g.7976602G>T , CM000679.1:g.7976602G>T	GRCh37
NC_000017.9:g.7917327G>T	NCBI36
NG_007099.1:g.19420C>A
NG_007099.2:g.19433C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.1790C>A MANE Select	ENSP00000497784.1:p.Ala597Glu
ENST00000649809.1:c.854C>A	ENSP00000496845.1:p.Ala285Glu
ENST00000650441.1:n.213C>A
ENST00000319144.4:c.1790C>A	ENSP00000315167.4:p.Ala597Glu
ENST00000577351.5:n.514C>A
NM_001139.2:c.1790C>A	NP_001130.1:p.Ala597Glu
NM_001139.3:c.1790C>A MANE Select	NP_001130.1:p.Ala597Glu