Canonical Allele Identifier: CA1135842192
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs2147418587
gnomAD v3: X-101348925-T-G
gnomAD v4: X-101348925-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348925T>G , CM000685.2:g.101348925T>G GRCh38
NC_000023.10:g.100603913T>G , CM000685.1:g.100603913T>G GRCh37
NC_000023.9:g.100490569T>G NCBI36
NG_009616.1:g.42300A>C , LRG_128:g.42300A>C
NG_011734.1:g.5045A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.3:c.-261A>C ENSP00000361993.3:n.-261A>C
NM_004085.3:c.-261A>C NP_004076.1:n.-261A>C
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