Canonical Allele Identifier: CA413915324
Gene: TIMM8A HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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