Canonical Allele Identifier: CA2448281320
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348133C= , CM000685.2:g.101348133C= GRCh38
NC_000023.10:g.100603121C= , CM000685.1:g.100603121C= GRCh37
NC_000023.9:g.100489777C= NCBI36
NG_009616.1:g.43092G= , LRG_128:g.43092G=
NG_011734.1:g.5837G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+400G= MANE Select ENSP00000361993.3:n.132+400G=
ENST00000644112.2:c.*254G= ENSP00000494385.1:n.*254G=
ENST00000645279.1:c.*254G= ENSP00000494239.1:n.*254G=
ENST00000647480.1:n.443G=
ENST00000372902.3:c.132+400G= ENSP00000361993.3:n.132+400G=
ENST00000480575.1:n.486G=
NM_001145951.1:c.*254G= NP_001139423.1:n.*254G=
NM_004085.3:c.132+400G= NP_004076.1:n.132+400G=
NM_004085.4:c.132+400G= MANE Select NP_004076.1:n.132+400G=
NM_001145951.2:c.*254G= NP_001139423.1:n.*254G=