Canonical Allele Identifier: CA2448281311
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs1926124914
gnomAD v4: X-101348105-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348105G>T , CM000685.2:g.101348105G>T GRCh38
NC_000023.10:g.100603093G>T , CM000685.1:g.100603093G>T GRCh37
NC_000023.9:g.100489749G>T NCBI36
NG_009616.1:g.43120C>A , LRG_128:g.43120C>A
NG_011734.1:g.5865C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+428C>A MANE Select ENSP00000361993.3:n.132+428C>A
ENST00000644112.2:c.*282C>A ENSP00000494385.1:n.*282C>A
ENST00000645279.1:c.*282C>A ENSP00000494239.1:n.*282C>A
ENST00000647480.1:n.471C>A
ENST00000372902.3:c.132+428C>A ENSP00000361993.3:n.132+428C>A
ENST00000480575.1:n.514C>A
NM_001145951.1:c.*282C>A NP_001139423.1:n.*282C>A
NM_004085.3:c.132+428C>A NP_004076.1:n.132+428C>A
NM_004085.4:c.132+428C>A MANE Select NP_004076.1:n.132+428C>A
NM_001145951.2:c.*282C>A NP_001139423.1:n.*282C>A
Search 100 bp 5'
Search 100 bp 3'