Canonical Allele Identifier: CA775580662
Gene: ALOX12B HGNC NCBI

Linked Data

dbSNP Id: rs1280083960
gnomAD v4: 17-8075496-A-G
MyVariant Identifiers: chr17:g.7978814A>G (hg19) chr17:g.8075496A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.8075496A>G , CM000679.2:g.8075496A>G GRCh38
NC_000017.10:g.7978814A>G , CM000679.1:g.7978814A>G GRCh37
NC_000017.9:g.7919539A>G NCBI36
NG_007099.1:g.17208T>C
NG_007099.2:g.17221T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000647874.1:c.1654+99T>C MANE Select ENSP00000497784.1:n.1654+99T>C
ENST00000649809.1:c.718+99T>C ENSP00000496845.1:n.718+99T>C
ENST00000319144.4:c.1654+99T>C ENSP00000315167.4:n.1654+99T>C
ENST00000577351.5:n.479+679T>C
NM_001139.2:c.1654+99T>C NP_001130.1:n.1654+99T>C
NM_001139.3:c.1654+99T>C MANE Select NP_001130.1:n.1654+99T>C
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