Canonical Allele Identifier: CA497762927
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1978297045
gnomAD v4: 17-8086107-C-A
MyVariant Identifiers: chr17:g.7989425C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8086107C>A , CM000679.2:g.8086107C>A GRCh38
NC_000017.10:g.7989425C>A , CM000679.1:g.7989425C>A GRCh37
NC_000017.9:g.7930150C>A NCBI36
NG_007099.1:g.6597G>T
NG_007099.2:g.6610G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.261G>T MANE Select ENSP00000497784.1:p.Val87=
ENST00000319144.4:c.261G>T ENSP00000315167.4:p.Val87=
NM_001139.2:c.261G>T NP_001130.1:p.Val87=
NM_001139.3:c.261G>T MANE Select NP_001130.1:p.Val87=