Canonical Allele Identifier: CA277196

Gene: ALOX12B

Linked Data

• ClinVar Variation Id: 212729
• ClinVar RCV Id: RCV000193750 ; RCV000421593
• dbSNP Id: rs199545653
• ExAC: 17:7978988 C / T
• gnomAD v2: 17-7978988-C-T
• gnomAD v3: 17-8075670-C-T
• gnomAD v4: 17-8075670-C-T
• MyVariant Identifiers: chr17:g.7978988C>T (hg19) ; chr17:g.8075670C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8075670C>T , CM000679.2:g.8075670C>T	GRCh38
NC_000017.10:g.7978988C>T , CM000679.1:g.7978988C>T	GRCh37
NC_000017.9:g.7919713C>T	NCBI36
NG_007099.1:g.17034G>A
NG_007099.2:g.17047G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.1579G>A MANE Select	ENSP00000497784.1:p.Val527Met
ENST00000649809.1:c.643G>A	ENSP00000496845.1:p.Val215Met
ENST00000319144.4:c.1579G>A	ENSP00000315167.4:p.Val527Met
ENST00000577351.5:n.479+505G>A
NM_001139.2:c.1579G>A	NP_001130.1:p.Val527Met
NM_001139.3:c.1579G>A MANE Select	NP_001130.1:p.Val527Met