Canonical Allele Identifier: CA10640927

Gene: ALOXE3

Linked Data

• ClinVar Variation Id: 325945
• ClinVar RCV Id: RCV000296983
• dbSNP Id: rs80223722
• gnomAD v2: 17-7999431-A-C
• gnomAD v3: 17-8096113-A-C
• gnomAD v4: 17-8096113-A-C
• MyVariant Identifiers: chr17:g.7999431A>C (hg19) ; chr17:g.7999431_7999432delinsCG (hg19) ; chr17:g.8096113A>C (hg38) ; chr17:g.8096113_8096114delinsCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8096113A>C , CM000679.2:g.8096113A>C	GRCh38
NC_000017.10:g.7999431A>C , CM000679.1:g.7999431A>C	GRCh37
NC_000017.9:g.7940156A>C	NCBI36
NG_015807.1:g.27804T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380149.6:c.*514T>G	ENSP00000369494.2:n.*514T>G
ENST00000448843.7:c.*514T>G MANE Select	ENSP00000400581.2:n.*514T>G
ENST00000380149.5:c.*514T>G	ENSP00000369494.1:n.*514T>G
ENST00000448843.6:c.*514T>G	ENSP00000400581.2:n.*514T>G
NM_001165960.1:c.*514T>G	NP_001159432.1:n.*514T>G
NM_021628.2:c.*514T>G	NP_067641.2:n.*514T>G
XR_001752579.2:n.2801T>G
NM_001369446.1:c.*514T>G	NP_001356375.1:n.*514T>G
NM_021628.3:c.*514T>G MANE Select	NP_067641.2:n.*514T>G