Canonical Allele Identifier: CA413915875
Gene: TIMM8A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348585G>A , CM000685.2:g.101348585G>A GRCh38
NC_000023.10:g.100603573G>A , CM000685.1:g.100603573G>A GRCh37
NC_000023.9:g.100490229G>A NCBI36
NG_009616.1:g.42640C>T , LRG_128:g.42640C>T
NG_011734.1:g.5385C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.80C>T MANE Select ENSP00000361993.3:p.Thr27Ile
ENST00000644112.2:c.80C>T ENSP00000494385.1:p.Thr27Ile
ENST00000645279.1:c.80C>T ENSP00000494239.1:p.Thr27Ile
ENST00000372902.3:c.80C>T ENSP00000361993.3:p.Thr27Ile
ENST00000480575.1:n.165C>T
NM_001145951.1:c.80C>T NP_001139423.1:p.Thr27Ile
NM_004085.3:c.80C>T NP_004076.1:p.Thr27Ile
NM_004085.4:c.80C>T MANE Select NP_004076.1:p.Thr27Ile
NM_001145951.2:c.80C>T NP_001139423.1:p.Thr27Ile