Canonical Allele Identifier: CA643063390
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs1164672297
gnomAD v2: X-100603840-C-A
gnomAD v3: X-101348852-C-A
gnomAD v4: X-101348852-C-A
MyVariant Identifiers: chrX:g.100603840C>A (hg19) chrX:g.101348852C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348852C>A , CM000685.2:g.101348852C>A GRCh38
NC_000023.10:g.100603840C>A , CM000685.1:g.100603840C>A GRCh37
NC_000023.9:g.100490496C>A NCBI36
NG_009616.1:g.42373G>T , LRG_128:g.42373G>T
NG_011734.1:g.5118G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.3:c.-188G>T ENSP00000361993.3:n.-188G>T
NM_004085.3:c.-188G>T NP_004076.1:n.-188G>T
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