Canonical Allele Identifier: CA178158

Gene: TIMM8A

Linked Data

• ClinVar Variation Id: 137659
• ClinVar RCV Id: RCV000152015 ; RCV000677076 ; RCV002362758
• dbSNP Id: rs180806413
• ExAC: X:100603658 G / A
• gnomAD v2: X-100603658-G-A
• gnomAD v3: X-101348670-G-A
• gnomAD v4: X-101348670-G-A
• MyVariant Identifiers: chrX:g.100603658G>A (hg19) ; chrX:g.101348670G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348670G>A , CM000685.2:g.101348670G>A	GRCh38
NC_000023.10:g.100603658G>A , CM000685.1:g.100603658G>A	GRCh37
NC_000023.9:g.100490314G>A	NCBI36
NG_009616.1:g.42555C>T , LRG_128:g.42555C>T
NG_011734.1:g.5300C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.-6C>T MANE Select	ENSP00000361993.3:n.-6C>T
ENST00000644112.2:c.-6C>T	ENSP00000494385.1:n.-6C>T
ENST00000645279.1:c.-6C>T	ENSP00000494239.1:n.-6C>T
ENST00000372902.3:c.-6C>T	ENSP00000361993.3:n.-6C>T
ENST00000480575.1:n.80C>T
NM_001145951.1:c.-6C>T	NP_001139423.1:n.-6C>T
NM_004085.3:c.-6C>T	NP_004076.1:n.-6C>T
NM_004085.4:c.-6C>T MANE Select	NP_004076.1:n.-6C>T
NM_001145951.2:c.-6C>T	NP_001139423.1:n.-6C>T