Canonical Allele Identifier: CA2448281582
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs1365370763
gnomAD v4: X-101348848-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348848G>T , CM000685.2:g.101348848G>T GRCh38
NC_000023.10:g.100603836G>T , CM000685.1:g.100603836G>T GRCh37
NC_000023.9:g.100490492G>T NCBI36
NG_009616.1:g.42377C>A , LRG_128:g.42377C>A
NG_011734.1:g.5122C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.3:c.-184C>A ENSP00000361993.3:n.-184C>A
NM_004085.3:c.-184C>A NP_004076.1:n.-184C>A
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