Canonical Allele Identifier: CA363326287

Gene: AIF1

Linked Data

• MyVariant Identifiers: chr6:g.31583898G>T (hg19) ; chr6:g.31616121G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616121G>T , CM000668.2:g.31616121G>T	GRCh38
NC_000006.11:g.31583898G>T , CM000668.1:g.31583898G>T	GRCh37
NC_000006.10:g.31691877G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.172G>T MANE Select	ENSP00000365227.3:p.Asp58Tyr
ENST00000337917.11:c.214G>T	ENSP00000338776.7:p.Asp72Tyr
ENST00000376049.4:c.10G>T	ENSP00000365217.4:p.Asp4Tyr
ENST00000376059.7:c.172G>T	ENSP00000365227.3:p.Asp58Tyr
ENST00000466820.1:n.589G>T
ENST00000497362.5:n.591G>T
NM_001623.3:c.172G>T	NP_001614.3:p.Asp58Tyr
NM_004847.3:c.10G>T	NP_004838.1:p.Asp4Tyr
NM_032955.1:c.10G>T	NP_116573.1:p.Asp4Tyr
XM_005248870.3:c.172G>T	XP_005248927.1:p.Asp58Tyr
XM_005248871.1:c.235G>T	XP_005248928.1:p.Asp79Tyr
NM_001318970.1:c.10G>T	NP_001305899.1:p.Asp4Tyr
NM_001623.4:c.172G>T	NP_001614.3:p.Asp58Tyr
NM_032955.2:c.10G>T	NP_116573.1:p.Asp4Tyr
XM_005248870.4:c.172G>T	XP_005248927.1:p.Asp58Tyr
XM_017010332.1:c.10G>T	XP_016865821.1:p.Asp4Tyr
NM_001623.5:c.172G>T MANE Select	NP_001614.3:p.Asp58Tyr
NM_001318970.2:c.10G>T	NP_001305899.1:p.Asp4Tyr
NM_032955.3:c.10G>T	NP_116573.1:p.Asp4Tyr