Canonical Allele Identifier: CA2448281579
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs1602997255
gnomAD v4: X-101348847-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348847G>A , CM000685.2:g.101348847G>A GRCh38
NC_000023.10:g.100603835G>A , CM000685.1:g.100603835G>A GRCh37
NC_000023.9:g.100490491G>A NCBI36
NG_009616.1:g.42378C>T , LRG_128:g.42378C>T
NG_011734.1:g.5123C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.3:c.-183C>T ENSP00000361993.3:n.-183C>T
NM_004085.3:c.-183C>T NP_004076.1:n.-183C>T
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