Canonical Allele Identifier: CA2822684788

Gene: TIMM8A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348189T>G , CM000685.2:g.101348189T>G	GRCh38
NC_000023.10:g.100603177T>G , CM000685.1:g.100603177T>G	GRCh37
NC_000023.9:g.100489833T>G	NCBI36
NG_009616.1:g.43036A>C , LRG_128:g.43036A>C
NG_011734.1:g.5781A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+344A>C MANE Select	ENSP00000361993.3:n.132+344A>C
ENST00000644112.2:c.*198A>C	ENSP00000494385.1:n.*198A>C
ENST00000645279.1:c.*198A>C	ENSP00000494239.1:n.*198A>C
ENST00000647480.1:n.387A>C
ENST00000372902.3:c.132+344A>C	ENSP00000361993.3:n.132+344A>C
ENST00000480575.1:n.430A>C
NM_001145951.1:c.*198A>C	NP_001139423.1:n.*198A>C
NM_004085.3:c.132+344A>C	NP_004076.1:n.132+344A>C
NM_004085.4:c.132+344A>C MANE Select	NP_004076.1:n.132+344A>C
NM_001145951.2:c.*198A>C	NP_001139423.1:n.*198A>C