Canonical Allele Identifier: CA2694292058

Gene: TIMM8A

Linked Data

• gnomAD v4: X-101348309-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348309C>T , CM000685.2:g.101348309C>T	GRCh38
NC_000023.10:g.100603297C>T , CM000685.1:g.100603297C>T	GRCh37
NC_000023.9:g.100489953C>T	NCBI36
NG_009616.1:g.42916G>A , LRG_128:g.42916G>A
NG_011734.1:g.5661G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+224G>A MANE Select	ENSP00000361993.3:n.132+224G>A
ENST00000644112.2:c.*78G>A	ENSP00000494385.1:n.*78G>A
ENST00000645279.1:c.*78G>A	ENSP00000494239.1:n.*78G>A
ENST00000647480.1:n.267G>A
ENST00000372902.3:c.132+224G>A	ENSP00000361993.3:n.132+224G>A
ENST00000480575.1:n.310G>A
NM_001145951.1:c.*78G>A	NP_001139423.1:n.*78G>A
NM_004085.3:c.132+224G>A	NP_004076.1:n.132+224G>A
NM_004085.4:c.132+224G>A MANE Select	NP_004076.1:n.132+224G>A
NM_001145951.2:c.*78G>A	NP_001139423.1:n.*78G>A