Canonical Allele Identifier: CA358815
Gene: TIMM8A HGNC NCBI

Linked Data

ClinVar Variation Id: 11325
ClinVar RCV Id: RCV000012077
dbSNP Id: rs869320666
MyVariant Identifiers: chrX:g.100601671T>G (hg19) chrX:g.101346683T>G (hg38)
PubMed: PMID:15710860
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101346683T>G , CM000685.2:g.101346683T>G GRCh38
NC_000023.10:g.100601671T>G , CM000685.1:g.100601671T>G GRCh37
NC_000023.9:g.100488327T>G NCBI36
NG_011734.1:g.7287A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372902.4:c.133-23A>C MANE Select ENSP00000361993.3:n.133-23A>C
ENST00000644112.2:c.*1704A>C ENSP00000494385.1:n.*1704A>C
ENST00000645279.1:c.*327-23A>C ENSP00000494239.1:n.*327-23A>C
ENST00000647480.1:n.650-23A>C
ENST00000372902.3:c.133-23A>C ENSP00000361993.3:n.133-23A>C
NM_004085.3:c.133-23A>C NP_004076.1:n.133-23A>C
NM_004085.4:c.133-23A>C MANE Select NP_004076.1:n.133-23A>C
NM_001145951.2:c.*1704A>C NP_001139423.1:n.*1704A>C
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