Canonical Allele Identifier: CA2448281310
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348101A= , CM000685.2:g.101348101A= GRCh38
NC_000023.10:g.100603089A= , CM000685.1:g.100603089A= GRCh37
NC_000023.9:g.100489745A= NCBI36
NG_009616.1:g.43124T= , LRG_128:g.43124T=
NG_011734.1:g.5869T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+432T= MANE Select ENSP00000361993.3:n.132+432T=
ENST00000644112.2:c.*286T= ENSP00000494385.1:n.*286T=
ENST00000645279.1:c.*286T= ENSP00000494239.1:n.*286T=
ENST00000647480.1:n.475T=
ENST00000372902.3:c.132+432T= ENSP00000361993.3:n.132+432T=
ENST00000480575.1:n.518T=
NM_001145951.1:c.*286T= NP_001139423.1:n.*286T=
NM_004085.3:c.132+432T= NP_004076.1:n.132+432T=
NM_004085.4:c.132+432T= MANE Select NP_004076.1:n.132+432T=
NM_001145951.2:c.*286T= NP_001139423.1:n.*286T=