Canonical Allele Identifier: CA342010
Gene: TIMM8A HGNC NCBI

Linked Data

ClinVar Variation Id: 21393
ClinVar RCV Id: RCV000020579
dbSNP Id: rs80356559

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348553G>A , CM000685.2:g.101348553G>A GRCh38
NC_000023.10:g.100603541G>A , CM000685.1:g.100603541G>A GRCh37
NC_000023.9:g.100490197G>A NCBI36
NG_009616.1:g.42672C>T , LRG_128:g.42672C>T
NG_011734.1:g.5417C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372902.4:c.112C>T MANE Select ENSP00000361993.3:p.Gln38Ter
ENST00000644112.2:c.112C>T ENSP00000494385.1:p.Gln38Ter
ENST00000645279.1:c.112C>T ENSP00000494239.1:p.Gln38Ter
ENST00000647480.1:n.23C>T
ENST00000372902.3:c.112C>T ENSP00000361993.3:p.Gln38Ter
ENST00000480575.1:n.197C>T
NM_001145951.1:c.112C>T NP_001139423.1:p.Gln38Ter
NM_004085.3:c.112C>T NP_004076.1:p.Gln38Ter
NM_004085.4:c.112C>T MANE Select NP_004076.1:p.Gln38Ter
NM_001145951.2:c.112C>T NP_001139423.1:p.Gln38Ter