Canonical Allele Identifier: CA1135842100
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs1926155892
gnomAD v3: X-101348751-C-G
gnomAD v4: X-101348751-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348751C>G , CM000685.2:g.101348751C>G GRCh38
NC_000023.10:g.100603739C>G , CM000685.1:g.100603739C>G GRCh37
NC_000023.9:g.100490395C>G NCBI36
NG_009616.1:g.42474G>C , LRG_128:g.42474G>C
NG_011734.1:g.5219G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.3:c.-87G>C ENSP00000361993.3:n.-87G>C
NM_004085.3:c.-87G>C NP_004076.1:n.-87G>C
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