Canonical Allele Identifier: CA397990916

Gene: ALOX12B

Linked Data

• gnomAD v4: 17-8076322-C-G
• MyVariant Identifiers: chr17:g.7979640C>G (hg19) ; chr17:g.8076322C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8076322C>G , CM000679.2:g.8076322C>G	GRCh38
NC_000017.10:g.7979640C>G , CM000679.1:g.7979640C>G	GRCh37
NC_000017.9:g.7920365C>G	NCBI36
NG_007099.1:g.16382G>C
NG_007099.2:g.16395G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000647874.1:c.1385G>C MANE Select	ENSP00000497784.1:p.Gly462Ala
ENST00000649809.1:c.449G>C	ENSP00000496845.1:p.Gly150Ala
ENST00000319144.4:c.1385G>C	ENSP00000315167.4:p.Gly462Ala
ENST00000577351.5:n.332G>C
ENST00000583276.5:n.769G>C
ENST00000584116.1:n.641G>C
NM_001139.2:c.1385G>C	NP_001130.1:p.Gly462Ala
NM_001139.3:c.1385G>C MANE Select	NP_001130.1:p.Gly462Ala