Canonical Allele Identifier: CA333095685

Gene: TIMM8A

Linked Data

• dbSNP Id: rs961847887
• gnomAD v4: X-101348193-A-C
• MyVariant Identifiers: chrX:g.100603181A>C (hg19) ; chrX:g.101348193A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348193A>C , CM000685.2:g.101348193A>C	GRCh38
NC_000023.10:g.100603181A>C , CM000685.1:g.100603181A>C	GRCh37
NC_000023.9:g.100489837A>C	NCBI36
NG_009616.1:g.43032T>G , LRG_128:g.43032T>G
NG_011734.1:g.5777T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.132+340T>G MANE Select	ENSP00000361993.3:n.132+340T>G
ENST00000644112.2:c.*194T>G	ENSP00000494385.1:n.*194T>G
ENST00000645279.1:c.*194T>G	ENSP00000494239.1:n.*194T>G
ENST00000647480.1:n.383T>G
ENST00000372902.3:c.132+340T>G	ENSP00000361993.3:n.132+340T>G
ENST00000480575.1:n.426T>G
NM_001145951.1:c.*194T>G	NP_001139423.1:n.*194T>G
NM_004085.3:c.132+340T>G	NP_004076.1:n.132+340T>G
NM_004085.4:c.132+340T>G MANE Select	NP_004076.1:n.132+340T>G
NM_001145951.2:c.*194T>G	NP_001139423.1:n.*194T>G