Canonical Allele Identifier: CA413916466
Gene: TIMM8A HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348631A>C , CM000685.2:g.101348631A>C GRCh38
NC_000023.10:g.100603619A>C , CM000685.1:g.100603619A>C GRCh37
NC_000023.9:g.100490275A>C NCBI36
NG_009616.1:g.42594T>G , LRG_128:g.42594T>G
NG_011734.1:g.5339T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.34T>G MANE Select ENSP00000361993.3:p.Leu12Val
ENST00000644112.2:c.34T>G ENSP00000494385.1:p.Leu12Val
ENST00000645279.1:c.34T>G ENSP00000494239.1:p.Leu12Val
ENST00000372902.3:c.34T>G ENSP00000361993.3:p.Leu12Val
ENST00000480575.1:n.119T>G
NM_001145951.1:c.34T>G NP_001139423.1:p.Leu12Val
NM_004085.3:c.34T>G NP_004076.1:p.Leu12Val
NM_004085.4:c.34T>G MANE Select NP_004076.1:p.Leu12Val
NM_001145951.2:c.34T>G NP_001139423.1:p.Leu12Val