Canonical Allele Identifier: CA397990038
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1977065399
gnomAD v4: 17-8075700-T-A
MyVariant Identifiers: chr17:g.7979018T>A (hg19) chr17:g.8075700T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075700T>A , CM000679.2:g.8075700T>A GRCh38
NC_000017.10:g.7979018T>A , CM000679.1:g.7979018T>A GRCh37
NC_000017.9:g.7919743T>A NCBI36
NG_007099.1:g.17004A>T
NG_007099.2:g.17017A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000647874.1:c.1549A>T MANE Select ENSP00000497784.1:p.Ile517Phe
ENST00000649809.1:c.613A>T ENSP00000496845.1:p.Ile205Phe
ENST00000319144.4:c.1549A>T ENSP00000315167.4:p.Ile517Phe
ENST00000577351.5:n.479+475A>T
NM_001139.2:c.1549A>T NP_001130.1:p.Ile517Phe
NM_001139.3:c.1549A>T MANE Select NP_001130.1:p.Ile517Phe
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