Canonical Allele Identifier: CA413914268
Gene: TIMM8A HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.100601638A>C (hg19) chrX:g.101346650A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101346650A>C , CM000685.2:g.101346650A>C GRCh38
NC_000023.10:g.100601638A>C , CM000685.1:g.100601638A>C GRCh37
NC_000023.9:g.100488294A>C NCBI36
NG_011734.1:g.7320T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.143T>G MANE Select ENSP00000361993.3:p.Met48Arg
ENST00000644112.2:c.*1737T>G ENSP00000494385.1:n.*1737T>G
ENST00000645279.1:c.*337T>G ENSP00000494239.1:n.*337T>G
ENST00000647480.1:n.660T>G
ENST00000372902.3:c.143T>G ENSP00000361993.3:p.Met48Arg
NM_004085.3:c.143T>G NP_004076.1:p.Met48Arg
NM_004085.4:c.143T>G MANE Select NP_004076.1:p.Met48Arg
NM_001145951.2:c.*1737T>G NP_001139423.1:n.*1737T>G
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