Canonical Allele Identifier: CA2694292060
Gene: TIMM8A HGNC NCBI

Linked Data

gnomAD v4: X-101348315-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348315C>T , CM000685.2:g.101348315C>T GRCh38
NC_000023.10:g.100603303C>T , CM000685.1:g.100603303C>T GRCh37
NC_000023.9:g.100489959C>T NCBI36
NG_009616.1:g.42910G>A , LRG_128:g.42910G>A
NG_011734.1:g.5655G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+218G>A MANE Select ENSP00000361993.3:n.132+218G>A
ENST00000644112.2:c.*72G>A ENSP00000494385.1:n.*72G>A
ENST00000645279.1:c.*72G>A ENSP00000494239.1:n.*72G>A
ENST00000647480.1:n.261G>A
ENST00000372902.3:c.132+218G>A ENSP00000361993.3:n.132+218G>A
ENST00000480575.1:n.304G>A
NM_001145951.1:c.*72G>A NP_001139423.1:n.*72G>A
NM_004085.3:c.132+218G>A NP_004076.1:n.132+218G>A
NM_004085.4:c.132+218G>A MANE Select NP_004076.1:n.132+218G>A
NM_001145951.2:c.*72G>A NP_001139423.1:n.*72G>A
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