Canonical Allele Identifier: CA333095795
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs1052624260
gnomAD v2: X-100603932-G-T
gnomAD v3: X-101348944-G-T
gnomAD v4: X-101348944-G-T
MyVariant Identifiers: chrX:g.100603932G>T (hg19) chrX:g.101348944G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348944G>T , CM000685.2:g.101348944G>T GRCh38
NC_000023.10:g.100603932G>T , CM000685.1:g.100603932G>T GRCh37
NC_000023.9:g.100490588G>T NCBI36
NG_009616.1:g.42281C>A , LRG_128:g.42281C>A
NG_011734.1:g.5026C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.3:c.-280C>A ENSP00000361993.3:n.-280C>A
NM_004085.3:c.-280C>A NP_004076.1:n.-280C>A
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