Canonical Allele Identifier: CA2694292005
Gene: TIMM8A HGNC NCBI

Linked Data

gnomAD v4: X-101348221-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348221C>T , CM000685.2:g.101348221C>T GRCh38
NC_000023.10:g.100603209C>T , CM000685.1:g.100603209C>T GRCh37
NC_000023.9:g.100489865C>T NCBI36
NG_009616.1:g.43004G>A , LRG_128:g.43004G>A
NG_011734.1:g.5749G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+312G>A MANE Select ENSP00000361993.3:n.132+312G>A
ENST00000644112.2:c.*166G>A ENSP00000494385.1:n.*166G>A
ENST00000645279.1:c.*166G>A ENSP00000494239.1:n.*166G>A
ENST00000647480.1:n.355G>A
ENST00000372902.3:c.132+312G>A ENSP00000361993.3:n.132+312G>A
ENST00000480575.1:n.398G>A
NM_001145951.1:c.*166G>A NP_001139423.1:n.*166G>A
NM_004085.3:c.132+312G>A NP_004076.1:n.132+312G>A
NM_004085.4:c.132+312G>A MANE Select NP_004076.1:n.132+312G>A
NM_001145951.2:c.*166G>A NP_001139423.1:n.*166G>A
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