Canonical Allele Identifier: CA413915176
Gene: TIMM8A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348537C>A , CM000685.2:g.101348537C>A GRCh38
NC_000023.10:g.100603525C>A , CM000685.1:g.100603525C>A GRCh37
NC_000023.9:g.100490181C>A NCBI36
NG_009616.1:g.42688G>T , LRG_128:g.42688G>T
NG_011734.1:g.5433G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.128G>T MANE Select ENSP00000361993.3:p.Cys43Phe
ENST00000644112.2:c.128G>T ENSP00000494385.1:p.Cys43Phe
ENST00000645279.1:c.128G>T ENSP00000494239.1:p.Cys43Phe
ENST00000647480.1:n.39G>T
ENST00000372902.3:c.128G>T ENSP00000361993.3:p.Cys43Phe
ENST00000480575.1:n.213G>T
NM_001145951.1:c.128G>T NP_001139423.1:p.Cys43Phe
NM_004085.3:c.128G>T NP_004076.1:p.Cys43Phe
NM_004085.4:c.128G>T MANE Select NP_004076.1:p.Cys43Phe
NM_001145951.2:c.128G>T NP_001139423.1:p.Cys43Phe