Canonical Allele Identifier: CA2448281308
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs1926124615

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348094dup , CM000685.2:g.101348094dup GRCh38
NC_000023.10:g.100603082dup , CM000685.1:g.100603082dup GRCh37
NC_000023.9:g.100489738dup NCBI36
NG_009616.1:g.43135dup , LRG_128:g.43135dup
NG_011734.1:g.5880dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+443dup MANE Select ENSP00000361993.3:n.132+443dup
ENST00000644112.2:c.*297dup ENSP00000494385.1:n.*297dup
ENST00000645279.1:c.*297dup ENSP00000494239.1:n.*297dup
ENST00000647480.1:n.486dup
ENST00000372902.3:c.132+443dup ENSP00000361993.3:n.132+443dup
ENST00000480575.1:n.529dup
NM_001145951.1:c.*297dup NP_001139423.1:n.*297dup
NM_004085.3:c.132+443dup NP_004076.1:n.132+443dup
NM_004085.4:c.132+443dup MANE Select NP_004076.1:n.132+443dup
NM_001145951.2:c.*297dup NP_001139423.1:n.*297dup