Canonical Allele Identifier: CA2448281365

Gene: TIMM8A

Linked Data

• dbSNP Id: rs1926131886
• gnomAD v4: X-101348301-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348304dup , CM000685.2:g.101348304dup	GRCh38
NC_000023.10:g.100603292dup , CM000685.1:g.100603292dup	GRCh37
NC_000023.9:g.100489948dup	NCBI36
NG_009616.1:g.42923dup , LRG_128:g.42923dup
NG_011734.1:g.5668dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+231dup MANE Select	ENSP00000361993.3:n.132+231dup
ENST00000644112.2:c.*85dup	ENSP00000494385.1:n.*85dup
ENST00000645279.1:c.*85dup	ENSP00000494239.1:n.*85dup
ENST00000647480.1:n.274dup
ENST00000372902.3:c.132+231dup	ENSP00000361993.3:n.132+231dup
ENST00000480575.1:n.317dup
NM_001145951.1:c.*85dup	NP_001139423.1:n.*85dup
NM_004085.3:c.132+231dup	NP_004076.1:n.132+231dup
NM_004085.4:c.132+231dup MANE Select	NP_004076.1:n.132+231dup
NM_001145951.2:c.*85dup	NP_001139423.1:n.*85dup