Canonical Allele Identifier: CA333095783

Gene: TIMM8A

Linked Data

• dbSNP Id: rs782694769
• gnomAD v3: X-101348855-C-T
• gnomAD v4: X-101348855-C-T
• MyVariant Identifiers: chrX:g.100603843C>T (hg19) ; chrX:g.101348855C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348855C>T , CM000685.2:g.101348855C>T	GRCh38
NC_000023.10:g.100603843C>T , CM000685.1:g.100603843C>T	GRCh37
NC_000023.9:g.100490499C>T	NCBI36
NG_009616.1:g.42370G>A , LRG_128:g.42370G>A
NG_011734.1:g.5115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.3:c.-191G>A	ENSP00000361993.3:n.-191G>A
NM_004085.3:c.-191G>A	NP_004076.1:n.-191G>A