Canonical Allele Identifier: CA643063402
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs1280598844
gnomAD v2: X-100603891-C-G
gnomAD v3: X-101348903-C-G
gnomAD v4: X-101348903-C-G
MyVariant Identifiers: chrX:g.100603891C>G (hg19) chrX:g.101348903C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348903C>G , CM000685.2:g.101348903C>G GRCh38
NC_000023.10:g.100603891C>G , CM000685.1:g.100603891C>G GRCh37
NC_000023.9:g.100490547C>G NCBI36
NG_009616.1:g.42322G>C , LRG_128:g.42322G>C
NG_011734.1:g.5067G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.3:c.-239G>C ENSP00000361993.3:n.-239G>C
NM_004085.3:c.-239G>C NP_004076.1:n.-239G>C
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