Canonical Allele Identifier: CA2694291995

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348208-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348208G>C , CM000685.2:g.101348208G>C	GRCh38
NC_000023.10:g.100603196G>C , CM000685.1:g.100603196G>C	GRCh37
NC_000023.9:g.100489852G>C	NCBI36
NG_009616.1:g.43017C>G , LRG_128:g.43017C>G
NG_011734.1:g.5762C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+325C>G MANE Select	ENSP00000361993.3:n.132+325C>G
ENST00000644112.2:c.*179C>G	ENSP00000494385.1:n.*179C>G
ENST00000645279.1:c.*179C>G	ENSP00000494239.1:n.*179C>G
ENST00000647480.1:n.368C>G
ENST00000372902.3:c.132+325C>G	ENSP00000361993.3:n.132+325C>G
ENST00000480575.1:n.411C>G
NM_001145951.1:c.*179C>G	NP_001139423.1:n.*179C>G
NM_004085.3:c.132+325C>G	NP_004076.1:n.132+325C>G
NM_004085.4:c.132+325C>G MANE Select	NP_004076.1:n.132+325C>G
NM_001145951.2:c.*179C>G	NP_001139423.1:n.*179C>G