Canonical Allele Identifier: CA397989904
Gene: ALOX12B HGNC NCBI

Linked Data

gnomAD v4: 17-8075670-C-G

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1579G>C MANE Select ENSP00000497784.1:p.Val527Leu
ENST00000649809.1:c.643G>C ENSP00000496845.1:p.Val215Leu
ENST00000319144.4:c.1579G>C ENSP00000315167.4:p.Val527Leu
ENST00000577351.5:n.479+505G>C
NM_001139.2:c.1579G>C NP_001130.1:p.Val527Leu
NM_001139.3:c.1579G>C MANE Select NP_001130.1:p.Val527Leu