Canonical Allele Identifier: CA10472942
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs782572807
ExAC: X:100603692 A / C
gnomAD v2: X-100603692-A-C
gnomAD v4: X-101348704-A-C
MyVariant Identifiers: chrX:g.100603692A>C (hg19) chrX:g.101348704A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348704A>C , CM000685.2:g.101348704A>C GRCh38
NC_000023.10:g.100603692A>C , CM000685.1:g.100603692A>C GRCh37
NC_000023.9:g.100490348A>C NCBI36
NG_009616.1:g.42521T>G , LRG_128:g.42521T>G
NG_011734.1:g.5266T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.-40T>G MANE Select ENSP00000361993.3:n.-40T>G
ENST00000644112.2:c.-40T>G ENSP00000494385.1:n.-40T>G
ENST00000372902.3:c.-40T>G ENSP00000361993.3:n.-40T>G
ENST00000480575.1:n.46T>G
NM_001145951.1:c.-40T>G NP_001139423.1:n.-40T>G
NM_004085.3:c.-40T>G NP_004076.1:n.-40T>G
NM_004085.4:c.-40T>G MANE Select NP_004076.1:n.-40T>G
NM_001145951.2:c.-40T>G NP_001139423.1:n.-40T>G
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