Canonical Allele Identifier: CA2579663724

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348313G>C , CM000685.2:g.101348313G>C	GRCh38
NC_000023.10:g.100603301G>C , CM000685.1:g.100603301G>C	GRCh37
NC_000023.9:g.100489957G>C	NCBI36
NG_009616.1:g.42912C>G , LRG_128:g.42912C>G
NG_011734.1:g.5657C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+220C>G MANE Select	ENSP00000361993.3:n.132+220C>G
ENST00000644112.2:c.*74C>G	ENSP00000494385.1:n.*74C>G
ENST00000645279.1:c.*74C>G	ENSP00000494239.1:n.*74C>G
ENST00000647480.1:n.263C>G
ENST00000372902.3:c.132+220C>G	ENSP00000361993.3:n.132+220C>G
ENST00000480575.1:n.306C>G
NM_001145951.1:c.*74C>G	NP_001139423.1:n.*74C>G
NM_004085.3:c.132+220C>G	NP_004076.1:n.132+220C>G
NM_004085.4:c.132+220C>G MANE Select	NP_004076.1:n.132+220C>G
NM_001145951.2:c.*74C>G	NP_001139423.1:n.*74C>G