Canonical Allele Identifier: CA10472924

Gene: TIMM8A

Linked Data

• ClinVar Variation Id: 1624330
• ClinVar RCV Id: RCV002113922
• dbSNP Id: rs376309906
• ExAC: X:100603550 G / A
• gnomAD v2: X-100603550-G-A
• gnomAD v3: X-101348562-G-A
• gnomAD v4: X-101348562-G-A
• MyVariant Identifiers: chrX:g.100603550G>A (hg19) ; chrX:g.101348562G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348562G>A , CM000685.2:g.101348562G>A	GRCh38
NC_000023.10:g.100603550G>A , CM000685.1:g.100603550G>A	GRCh37
NC_000023.9:g.100490206G>A	NCBI36
NG_009616.1:g.42663C>T , LRG_128:g.42663C>T
NG_011734.1:g.5408C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372902.4:c.103C>T MANE Select	ENSP00000361993.3:p.Leu35=
ENST00000644112.2:c.103C>T	ENSP00000494385.1:p.Leu35=
ENST00000645279.1:c.103C>T	ENSP00000494239.1:p.Leu35=
ENST00000647480.1:n.14C>T
ENST00000372902.3:c.103C>T	ENSP00000361993.3:p.Leu35=
ENST00000480575.1:n.188C>T
NM_001145951.1:c.103C>T	NP_001139423.1:p.Leu35=
NM_004085.3:c.103C>T	NP_004076.1:p.Leu35=
NM_004085.4:c.103C>T MANE Select	NP_004076.1:p.Leu35=
NM_001145951.2:c.103C>T	NP_001139423.1:p.Leu35=