Canonical Allele Identifier: CA363326343

Gene: AIF1

Linked Data

• MyVariant Identifiers: chr6:g.31583904A>T (hg19) ; chr6:g.31616127A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31616127A>T , CM000668.2:g.31616127A>T	GRCh38
NC_000006.11:g.31583904A>T , CM000668.1:g.31583904A>T	GRCh37
NC_000006.10:g.31691883A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376059.8:c.178A>T MANE Select	ENSP00000365227.3:p.Asn60Tyr
ENST00000337917.11:c.220A>T	ENSP00000338776.7:p.Asn74Tyr
ENST00000376049.4:c.16A>T	ENSP00000365217.4:p.Asn6Tyr
ENST00000376059.7:c.178A>T	ENSP00000365227.3:p.Asn60Tyr
ENST00000466820.1:n.595A>T
ENST00000497362.5:n.597A>T
NM_001623.3:c.178A>T	NP_001614.3:p.Asn60Tyr
NM_004847.3:c.16A>T	NP_004838.1:p.Asn6Tyr
NM_032955.1:c.16A>T	NP_116573.1:p.Asn6Tyr
XM_005248870.3:c.178A>T	XP_005248927.1:p.Asn60Tyr
XM_005248871.1:c.241A>T	XP_005248928.1:p.Asn81Tyr
NM_001318970.1:c.16A>T	NP_001305899.1:p.Asn6Tyr
NM_001623.4:c.178A>T	NP_001614.3:p.Asn60Tyr
NM_032955.2:c.16A>T	NP_116573.1:p.Asn6Tyr
XM_005248870.4:c.178A>T	XP_005248927.1:p.Asn60Tyr
XM_017010332.1:c.16A>T	XP_016865821.1:p.Asn6Tyr
NM_001623.5:c.178A>T MANE Select	NP_001614.3:p.Asn60Tyr
NM_001318970.2:c.16A>T	NP_001305899.1:p.Asn6Tyr
NM_032955.3:c.16A>T	NP_116573.1:p.Asn6Tyr