Canonical Allele Identifier: CA363326313

Gene: AIF1

Linked Data

• MyVariant Identifiers: chr6:g.31583901C>T (hg19) ; chr6:g.31616124C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.175C>T MANE Select	ENSP00000365227.3:p.Leu59Phe
ENST00000337917.11:c.217C>T	ENSP00000338776.7:p.Leu73Phe
ENST00000376049.4:c.13C>T	ENSP00000365217.4:p.Leu5Phe
ENST00000376059.7:c.175C>T	ENSP00000365227.3:p.Leu59Phe
ENST00000466820.1:n.592C>T
ENST00000497362.5:n.594C>T
NM_001623.3:c.175C>T	NP_001614.3:p.Leu59Phe
NM_004847.3:c.13C>T	NP_004838.1:p.Leu5Phe
NM_032955.1:c.13C>T	NP_116573.1:p.Leu5Phe
XM_005248870.3:c.175C>T	XP_005248927.1:p.Leu59Phe
XM_005248871.1:c.238C>T	XP_005248928.1:p.Leu80Phe
NM_001318970.1:c.13C>T	NP_001305899.1:p.Leu5Phe
NM_001623.4:c.175C>T	NP_001614.3:p.Leu59Phe
NM_032955.2:c.13C>T	NP_116573.1:p.Leu5Phe
XM_005248870.4:c.175C>T	XP_005248927.1:p.Leu59Phe
XM_017010332.1:c.13C>T	XP_016865821.1:p.Leu5Phe
NM_001623.5:c.175C>T MANE Select	NP_001614.3:p.Leu59Phe
NM_001318970.2:c.13C>T	NP_001305899.1:p.Leu5Phe
NM_032955.3:c.13C>T	NP_116573.1:p.Leu5Phe