Canonical Allele Identifier: CA2694293878
Gene: TIMM8A HGNC NCBI

Linked Data

gnomAD v4: X-101348882-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348882C>G , CM000685.2:g.101348882C>G GRCh38
NC_000023.10:g.100603870C>G , CM000685.1:g.100603870C>G GRCh37
NC_000023.9:g.100490526C>G NCBI36
NG_009616.1:g.42343G>C , LRG_128:g.42343G>C
NG_011734.1:g.5088G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.3:c.-218G>C ENSP00000361993.3:n.-218G>C
NM_004085.3:c.-218G>C NP_004076.1:n.-218G>C
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