Canonical Allele Identifier: CA643063387

Gene: TIMM8A

Linked Data

• dbSNP Id: rs1423083444
• gnomAD v2: X-100603833-C-G
• gnomAD v3: X-101348845-C-G
• gnomAD v4: X-101348845-C-G
• MyVariant Identifiers: chrX:g.100603833C>G (hg19) ; chrX:g.101348845C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348845C>G , CM000685.2:g.101348845C>G	GRCh38
NC_000023.10:g.100603833C>G , CM000685.1:g.100603833C>G	GRCh37
NC_000023.9:g.100490489C>G	NCBI36
NG_009616.1:g.42380G>C , LRG_128:g.42380G>C
NG_011734.1:g.5125G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.3:c.-181G>C	ENSP00000361993.3:n.-181G>C
NM_004085.3:c.-181G>C	NP_004076.1:n.-181G>C