Canonical Allele Identifier: CA2448281566
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs1926159146
gnomAD v4: X-101348824-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348824C>T , CM000685.2:g.101348824C>T GRCh38
NC_000023.10:g.100603812C>T , CM000685.1:g.100603812C>T GRCh37
NC_000023.9:g.100490468C>T NCBI36
NG_009616.1:g.42401G>A , LRG_128:g.42401G>A
NG_011734.1:g.5146G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.3:c.-160G>A ENSP00000361993.3:n.-160G>A
NM_004085.3:c.-160G>A NP_004076.1:n.-160G>A
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