Canonical Allele Identifier: CA321558

Gene: TIMM8A

Linked Data

• ClinVar Variation Id: 215260
• ClinVar RCV Id: RCV000677075
• dbSNP Id: rs863224234
• MyVariant Identifiers: chrX:g.100603553G>A (hg19) ; chrX:g.101348565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348565G>A , CM000685.2:g.101348565G>A	GRCh38
NC_000023.10:g.100603553G>A , CM000685.1:g.100603553G>A	GRCh37
NC_000023.9:g.100490209G>A	NCBI36
NG_009616.1:g.42660C>T , LRG_128:g.42660C>T
NG_011734.1:g.5405C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000372902.4:c.100C>T MANE Select	ENSP00000361993.3:p.Gln34Ter
ENST00000644112.2:c.100C>T	ENSP00000494385.1:p.Gln34Ter
ENST00000645279.1:c.100C>T	ENSP00000494239.1:p.Gln34Ter
ENST00000647480.1:n.11C>T
ENST00000372902.3:c.100C>T	ENSP00000361993.3:p.Gln34Ter
ENST00000480575.1:n.185C>T
NM_001145951.1:c.100C>T	NP_001139423.1:p.Gln34Ter
NM_004085.3:c.100C>T	NP_004076.1:p.Gln34Ter
NM_004085.4:c.100C>T MANE Select	NP_004076.1:p.Gln34Ter
NM_001145951.2:c.100C>T	NP_001139423.1:p.Gln34Ter