Canonical Allele Identifier: CA2448281372
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348343A= , CM000685.2:g.101348343A= GRCh38
NC_000023.10:g.100603331A= , CM000685.1:g.100603331A= GRCh37
NC_000023.9:g.100489987A= NCBI36
NG_009616.1:g.42882T= , LRG_128:g.42882T=
NG_011734.1:g.5627T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+190T= MANE Select ENSP00000361993.3:n.132+190T=
ENST00000644112.2:c.*44T= ENSP00000494385.1:n.*44T=
ENST00000645279.1:c.*44T= ENSP00000494239.1:n.*44T=
ENST00000647480.1:n.233T=
ENST00000372902.3:c.132+190T= ENSP00000361993.3:n.132+190T=
ENST00000480575.1:n.276T=
NM_001145951.1:c.*44T= NP_001139423.1:n.*44T=
NM_004085.3:c.132+190T= NP_004076.1:n.132+190T=
NM_004085.4:c.132+190T= MANE Select NP_004076.1:n.132+190T=
NM_001145951.2:c.*44T= NP_001139423.1:n.*44T=