Canonical Allele Identifier: CA413915599
Gene: TIMM8A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348569G>T , CM000685.2:g.101348569G>T GRCh38
NC_000023.10:g.100603557G>T , CM000685.1:g.100603557G>T GRCh37
NC_000023.9:g.100490213G>T NCBI36
NG_009616.1:g.42656C>A , LRG_128:g.42656C>A
NG_011734.1:g.5401C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.96C>A MANE Select ENSP00000361993.3:p.Phe32Leu
ENST00000644112.2:c.96C>A ENSP00000494385.1:p.Phe32Leu
ENST00000645279.1:c.96C>A ENSP00000494239.1:p.Phe32Leu
ENST00000647480.1:n.7C>A
ENST00000372902.3:c.96C>A ENSP00000361993.3:p.Phe32Leu
ENST00000480575.1:n.181C>A
NM_001145951.1:c.96C>A NP_001139423.1:p.Phe32Leu
NM_004085.3:c.96C>A NP_004076.1:p.Phe32Leu
NM_004085.4:c.96C>A MANE Select NP_004076.1:p.Phe32Leu
NM_001145951.2:c.96C>A NP_001139423.1:p.Phe32Leu