Canonical Allele Identifier: CA497757453

Gene: ALOX12B

Linked Data

• dbSNP Id: rs1977061984
• gnomAD v4: 17-8075602-C-T
• MyVariant Identifiers: chr17:g.7978920C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8075602C>T , CM000679.2:g.8075602C>T	GRCh38
NC_000017.10:g.7978920C>T , CM000679.1:g.7978920C>T	GRCh37
NC_000017.9:g.7919645C>T	NCBI36
NG_007099.1:g.17102G>A
NG_007099.2:g.17115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647874.1:c.1647G>A MANE Select	ENSP00000497784.1:p.Glu549=
ENST00000649809.1:c.711G>A	ENSP00000496845.1:p.Glu237=
ENST00000319144.4:c.1647G>A	ENSP00000315167.4:p.Glu549=
ENST00000577351.5:n.479+573G>A
NM_001139.2:c.1647G>A	NP_001130.1:p.Glu549=
NM_001139.3:c.1647G>A MANE Select	NP_001130.1:p.Glu549=