Canonical Allele Identifier: CA2448281327
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348170G= , CM000685.2:g.101348170G= GRCh38
NC_000023.10:g.100603158G= , CM000685.1:g.100603158G= GRCh37
NC_000023.9:g.100489814G= NCBI36
NG_009616.1:g.43055C= , LRG_128:g.43055C=
NG_011734.1:g.5800C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+363C= MANE Select ENSP00000361993.3:n.132+363C=
ENST00000644112.2:c.*217C= ENSP00000494385.1:n.*217C=
ENST00000645279.1:c.*217C= ENSP00000494239.1:n.*217C=
ENST00000647480.1:n.406C=
ENST00000372902.3:c.132+363C= ENSP00000361993.3:n.132+363C=
ENST00000480575.1:n.449C=
NM_001145951.1:c.*217C= NP_001139423.1:n.*217C=
NM_004085.3:c.132+363C= NP_004076.1:n.132+363C=
NM_004085.4:c.132+363C= MANE Select NP_004076.1:n.132+363C=
NM_001145951.2:c.*217C= NP_001139423.1:n.*217C=