Canonical Allele Identifier: CA2694292018

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348241-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348241C>A , CM000685.2:g.101348241C>A	GRCh38
NC_000023.10:g.100603229C>A , CM000685.1:g.100603229C>A	GRCh37
NC_000023.9:g.100489885C>A	NCBI36
NG_009616.1:g.42984G>T , LRG_128:g.42984G>T
NG_011734.1:g.5729G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+292G>T MANE Select	ENSP00000361993.3:n.132+292G>T
ENST00000644112.2:c.*146G>T	ENSP00000494385.1:n.*146G>T
ENST00000645279.1:c.*146G>T	ENSP00000494239.1:n.*146G>T
ENST00000647480.1:n.335G>T
ENST00000372902.3:c.132+292G>T	ENSP00000361993.3:n.132+292G>T
ENST00000480575.1:n.378G>T
NM_001145951.1:c.*146G>T	NP_001139423.1:n.*146G>T
NM_004085.3:c.132+292G>T	NP_004076.1:n.132+292G>T
NM_004085.4:c.132+292G>T MANE Select	NP_004076.1:n.132+292G>T
NM_001145951.2:c.*146G>T	NP_001139423.1:n.*146G>T