Canonical Allele Identifier: CA2822684797

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348391G>T , CM000685.2:g.101348391G>T	GRCh38
NC_000023.10:g.100603379G>T , CM000685.1:g.100603379G>T	GRCh37
NC_000023.9:g.100490035G>T	NCBI36
NG_009616.1:g.42834C>A , LRG_128:g.42834C>A
NG_011734.1:g.5579C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+142C>A MANE Select	ENSP00000361993.3:n.132+142C>A
ENST00000644112.2:c.143C>A	ENSP00000494385.1:p.Ala48Asp
ENST00000645279.1:c.143C>A	ENSP00000494239.1:p.Ala48Asp
ENST00000647480.1:n.185C>A
ENST00000372902.3:c.132+142C>A	ENSP00000361993.3:n.132+142C>A
ENST00000480575.1:n.228C>A
NM_001145951.1:c.143C>A	NP_001139423.1:p.Ala48Asp
NM_004085.3:c.132+142C>A	NP_004076.1:n.132+142C>A
NM_004085.4:c.132+142C>A MANE Select	NP_004076.1:n.132+142C>A
NM_001145951.2:c.143C>A	NP_001139423.1:p.Ala48Asp