Canonical Allele Identifier: CA287543389

Gene: ALOX12B

Linked Data

• dbSNP Id: rs112486552
• MyVariant Identifiers: chr17:g.7979020A>G (hg19) ; chr17:g.8075702A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8075702A>G , CM000679.2:g.8075702A>G	GRCh38
NC_000017.10:g.7979020A>G , CM000679.1:g.7979020A>G	GRCh37
NC_000017.9:g.7919745A>G	NCBI36
NG_007099.1:g.17002T>C
NG_007099.2:g.17015T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.1547T>C MANE Select	ENSP00000497784.1:p.Ile516Thr
ENST00000649809.1:c.611T>C	ENSP00000496845.1:p.Ile204Thr
ENST00000319144.4:c.1547T>C	ENSP00000315167.4:p.Ile516Thr
ENST00000577351.5:n.479+473T>C
NM_001139.2:c.1547T>C	NP_001130.1:p.Ile516Thr
NM_001139.3:c.1547T>C MANE Select	NP_001130.1:p.Ile516Thr