Canonical Allele Identifier: CA517527544
Gene: TIMM8A HGNC NCBI

Linked Data

ClinVar Variation Id: 2732443
ClinVar RCV Id: RCV003573517
MyVariant Identifiers: chrX:g.100601628A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101346640A>G , CM000685.2:g.101346640A>G GRCh38
NC_000023.10:g.100601628A>G , CM000685.1:g.100601628A>G GRCh37
NC_000023.9:g.100488284A>G NCBI36
NG_011734.1:g.7330T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372902.4:c.153T>C MANE Select ENSP00000361993.3:p.Pro51=
ENST00000644112.2:c.*1747T>C ENSP00000494385.1:n.*1747T>C
ENST00000645279.1:c.*347T>C ENSP00000494239.1:n.*347T>C
ENST00000647480.1:n.670T>C
ENST00000372902.3:c.153T>C ENSP00000361993.3:p.Pro51=
NM_004085.3:c.153T>C NP_004076.1:p.Pro51=
NM_004085.4:c.153T>C MANE Select NP_004076.1:p.Pro51=
NM_001145951.2:c.*1747T>C NP_001139423.1:n.*1747T>C
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