Canonical Allele Identifier: CA413915328

Gene: TIMM8A

Linked Data

• MyVariant Identifiers: chrX:g.100603536C>T (hg19) ; chrX:g.101348548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101348548C>T , CM000685.2:g.101348548C>T	GRCh38
NC_000023.10:g.100603536C>T , CM000685.1:g.100603536C>T	GRCh37
NC_000023.9:g.100490192C>T	NCBI36
NG_009616.1:g.42677G>A , LRG_128:g.42677G>A
NG_011734.1:g.5422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372902.4:c.117G>A MANE Select	ENSP00000361993.3:p.Met39Ile
ENST00000644112.2:c.117G>A	ENSP00000494385.1:p.Met39Ile
ENST00000645279.1:c.117G>A	ENSP00000494239.1:p.Met39Ile
ENST00000647480.1:n.28G>A
ENST00000372902.3:c.117G>A	ENSP00000361993.3:p.Met39Ile
ENST00000480575.1:n.202G>A
NM_001145951.1:c.117G>A	NP_001139423.1:p.Met39Ile
NM_004085.3:c.117G>A	NP_004076.1:p.Met39Ile
NM_004085.4:c.117G>A MANE Select	NP_004076.1:p.Met39Ile
NM_001145951.2:c.117G>A	NP_001139423.1:p.Met39Ile