Canonical Allele Identifier: CA413912952
Gene: TIMM8A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101346556A>C , CM000685.2:g.101346556A>C GRCh38
NC_000023.10:g.100601544A>C , CM000685.1:g.100601544A>C GRCh37
NC_000023.9:g.100488200A>C NCBI36
NG_011734.1:g.7414T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.237T>G MANE Select ENSP00000361993.3:p.Asn79Lys
ENST00000644112.2:c.*1831T>G ENSP00000494385.1:n.*1831T>G
ENST00000645279.1:c.*431T>G ENSP00000494239.1:n.*431T>G
ENST00000647480.1:n.754T>G
ENST00000372902.3:c.237T>G ENSP00000361993.3:p.Asn79Lys
NM_004085.3:c.237T>G NP_004076.1:p.Asn79Lys
NM_004085.4:c.237T>G MANE Select NP_004076.1:p.Asn79Lys
NM_001145951.2:c.*1831T>G NP_001139423.1:n.*1831T>G