Canonical Allele Identifier: CA333095766
Gene: TIMM8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1216251
ClinVar RCV Id: RCV001580880
dbSNP Id: rs186138015
gnomAD v2: X-100603724-C-T
gnomAD v3: X-101348736-C-T
gnomAD v4: X-101348736-C-T
MyVariant Identifiers: chrX:g.100603724C>T (hg19) chrX:g.101348736C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348736C>T , CM000685.2:g.101348736C>T GRCh38
NC_000023.10:g.100603724C>T , CM000685.1:g.100603724C>T GRCh37
NC_000023.9:g.100490380C>T NCBI36
NG_009616.1:g.42489G>A , LRG_128:g.42489G>A
NG_011734.1:g.5234G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.-72G>A MANE Select ENSP00000361993.3:n.-72G>A
ENST00000644112.2:c.-72G>A ENSP00000494385.1:n.-72G>A
ENST00000372902.3:c.-72G>A ENSP00000361993.3:n.-72G>A
ENST00000480575.1:n.14G>A
NM_004085.3:c.-72G>A NP_004076.1:n.-72G>A
NM_004085.4:c.-72G>A MANE Select NP_004076.1:n.-72G>A
NM_001145951.2:c.-72G>A NP_001139423.1:n.-72G>A
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