Canonical Allele Identifier: CA397989718
Gene: ALOX12B HGNC NCBI

Linked Data

gnomAD v4: 17-8075631-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075631T>C , CM000679.2:g.8075631T>C GRCh38
NC_000017.10:g.7978949T>C , CM000679.1:g.7978949T>C GRCh37
NC_000017.9:g.7919674T>C NCBI36
NG_007099.1:g.17073A>G
NG_007099.2:g.17086A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1618A>G MANE Select ENSP00000497784.1:p.Ile540Val
ENST00000649809.1:c.682A>G ENSP00000496845.1:p.Ile228Val
ENST00000319144.4:c.1618A>G ENSP00000315167.4:p.Ile540Val
ENST00000577351.5:n.479+544A>G
NM_001139.2:c.1618A>G NP_001130.1:p.Ile540Val
NM_001139.3:c.1618A>G MANE Select NP_001130.1:p.Ile540Val