Canonical Allele Identifier: CA413916296
Gene: TIMM8A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348615G>T , CM000685.2:g.101348615G>T GRCh38
NC_000023.10:g.100603603G>T , CM000685.1:g.100603603G>T GRCh37
NC_000023.9:g.100490259G>T NCBI36
NG_009616.1:g.42610C>A , LRG_128:g.42610C>A
NG_011734.1:g.5355C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.50C>A MANE Select ENSP00000361993.3:p.Pro17Gln
ENST00000644112.2:c.50C>A ENSP00000494385.1:p.Pro17Gln
ENST00000645279.1:c.50C>A ENSP00000494239.1:p.Pro17Gln
ENST00000372902.3:c.50C>A ENSP00000361993.3:p.Pro17Gln
ENST00000480575.1:n.135C>A
NM_001145951.1:c.50C>A NP_001139423.1:p.Pro17Gln
NM_004085.3:c.50C>A NP_004076.1:p.Pro17Gln
NM_004085.4:c.50C>A MANE Select NP_004076.1:p.Pro17Gln
NM_001145951.2:c.50C>A NP_001139423.1:p.Pro17Gln