Canonical Allele Identifier: CA2542468549
Gene: TIMM8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348459T>A , CM000685.2:g.101348459T>A GRCh38
NC_000023.10:g.100603447T>A , CM000685.1:g.100603447T>A GRCh37
NC_000023.9:g.100490103T>A NCBI36
NG_009616.1:g.42766A>T , LRG_128:g.42766A>T
NG_011734.1:g.5511A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372902.4:c.132+74A>T MANE Select ENSP00000361993.3:n.132+74A>T
ENST00000644112.2:c.133-58A>T ENSP00000494385.1:n.133-58A>T
ENST00000645279.1:c.133-58A>T ENSP00000494239.1:n.133-58A>T
ENST00000647480.1:n.117A>T
ENST00000372902.3:c.132+74A>T ENSP00000361993.3:n.132+74A>T
ENST00000480575.1:n.218-58A>T
NM_001145951.1:c.133-58A>T NP_001139423.1:n.133-58A>T
NM_004085.3:c.132+74A>T NP_004076.1:n.132+74A>T
NM_004085.4:c.132+74A>T MANE Select NP_004076.1:n.132+74A>T
NM_001145951.2:c.133-58A>T NP_001139423.1:n.133-58A>T