Canonical Allele Identifier: CA10472923

Gene: TIMM8A

Linked Data

• dbSNP Id: rs782339001
• ExAC: X:100603548 C / T
• gnomAD v2: X-100603548-C-T
• gnomAD v4: X-101348560-C-T
• MyVariant Identifiers: chrX:g.100603548C>T (hg19) ; chrX:g.101348560C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348560C>T , CM000685.2:g.101348560C>T	GRCh38
NC_000023.10:g.100603548C>T , CM000685.1:g.100603548C>T	GRCh37
NC_000023.9:g.100490204C>T	NCBI36
NG_009616.1:g.42665G>A , LRG_128:g.42665G>A
NG_011734.1:g.5410G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000372902.4:c.105G>A MANE Select	ENSP00000361993.3:p.Leu35=
ENST00000644112.2:c.105G>A	ENSP00000494385.1:p.Leu35=
ENST00000645279.1:c.105G>A	ENSP00000494239.1:p.Leu35=
ENST00000647480.1:n.16G>A
ENST00000372902.3:c.105G>A	ENSP00000361993.3:p.Leu35=
ENST00000480575.1:n.190G>A
NM_001145951.1:c.105G>A	NP_001139423.1:p.Leu35=
NM_004085.3:c.105G>A	NP_004076.1:p.Leu35=
NM_004085.4:c.105G>A MANE Select	NP_004076.1:p.Leu35=
NM_001145951.2:c.105G>A	NP_001139423.1:p.Leu35=