Canonical Allele Identifier: CA413912834
Gene: TIMM8A HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.100601528G>T (hg19) chrX:g.101346540G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101346540G>T , CM000685.2:g.101346540G>T GRCh38
NC_000023.10:g.100601528G>T , CM000685.1:g.100601528G>T GRCh37
NC_000023.9:g.100488184G>T NCBI36
NG_011734.1:g.7430C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.253C>A MANE Select ENSP00000361993.3:p.Gln85Lys
ENST00000644112.2:c.*1847C>A ENSP00000494385.1:n.*1847C>A
ENST00000645279.1:c.*447C>A ENSP00000494239.1:n.*447C>A
ENST00000647480.1:n.770C>A
ENST00000372902.3:c.253C>A ENSP00000361993.3:p.Gln85Lys
NM_004085.3:c.253C>A NP_004076.1:p.Gln85Lys
NM_004085.4:c.253C>A MANE Select NP_004076.1:p.Gln85Lys
NM_001145951.2:c.*1847C>A NP_001139423.1:n.*1847C>A
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