Canonical Allele Identifier: CA363326312

Gene: AIF1

Linked Data

• dbSNP Id: rs1263515562
• gnomAD v2: 6-31583901-C-A
• gnomAD v3: 6-31616124-C-A
• gnomAD v4: 6-31616124-C-A
• MyVariant Identifiers: chr6:g.31583901C>A (hg19) ; chr6:g.31616124C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616124C>A , CM000668.2:g.31616124C>A	GRCh38
NC_000006.11:g.31583901C>A , CM000668.1:g.31583901C>A	GRCh37
NC_000006.10:g.31691880C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.175C>A MANE Select	ENSP00000365227.3:p.Leu59Ile
ENST00000337917.11:c.217C>A	ENSP00000338776.7:p.Leu73Ile
ENST00000376049.4:c.13C>A	ENSP00000365217.4:p.Leu5Ile
ENST00000376059.7:c.175C>A	ENSP00000365227.3:p.Leu59Ile
ENST00000466820.1:n.592C>A
ENST00000497362.5:n.594C>A
NM_001623.3:c.175C>A	NP_001614.3:p.Leu59Ile
NM_004847.3:c.13C>A	NP_004838.1:p.Leu5Ile
NM_032955.1:c.13C>A	NP_116573.1:p.Leu5Ile
XM_005248870.3:c.175C>A	XP_005248927.1:p.Leu59Ile
XM_005248871.1:c.238C>A	XP_005248928.1:p.Leu80Ile
NM_001318970.1:c.13C>A	NP_001305899.1:p.Leu5Ile
NM_001623.4:c.175C>A	NP_001614.3:p.Leu59Ile
NM_032955.2:c.13C>A	NP_116573.1:p.Leu5Ile
XM_005248870.4:c.175C>A	XP_005248927.1:p.Leu59Ile
XM_017010332.1:c.13C>A	XP_016865821.1:p.Leu5Ile
NM_001623.5:c.175C>A MANE Select	NP_001614.3:p.Leu59Ile
NM_001318970.2:c.13C>A	NP_001305899.1:p.Leu5Ile
NM_032955.3:c.13C>A	NP_116573.1:p.Leu5Ile