Canonical Allele Identifier: CA8367749
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs199740662
gnomAD v2: 17-7989559-G-A
gnomAD v3: 17-8086241-G-A
gnomAD v4: 17-8086241-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086241G>A , CM000679.2:g.8086241G>A GRCh38
NC_000017.10:g.7989559G>A , CM000679.1:g.7989559G>A GRCh37
NC_000017.9:g.7930284G>A NCBI36
NG_007099.1:g.6463C>T
NG_007099.2:g.6476C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.148-21C>T MANE Select ENSP00000497784.1:n.148-21C>T
ENST00000319144.4:c.148-21C>T ENSP00000315167.4:n.148-21C>T
NM_001139.2:c.148-21C>T NP_001130.1:n.148-21C>T
NM_001139.3:c.148-21C>T MANE Select NP_001130.1:n.148-21C>T