Canonical Allele Identifier: CA2448281429
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs1926141458
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348470C>G , CM000685.2:g.101348470C>G GRCh38
NC_000023.10:g.100603458C>G , CM000685.1:g.100603458C>G GRCh37
NC_000023.9:g.100490114C>G NCBI36
NG_009616.1:g.42755G>C , LRG_128:g.42755G>C
NG_011734.1:g.5500G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372902.4:c.132+63G>C MANE Select ENSP00000361993.3:n.132+63G>C
ENST00000644112.2:c.132+63G>C ENSP00000494385.1:n.132+63G>C
ENST00000645279.1:c.132+63G>C ENSP00000494239.1:n.132+63G>C
ENST00000647480.1:n.106G>C
ENST00000372902.3:c.132+63G>C ENSP00000361993.3:n.132+63G>C
ENST00000480575.1:n.217+63G>C
NM_001145951.1:c.132+63G>C NP_001139423.1:n.132+63G>C
NM_004085.3:c.132+63G>C NP_004076.1:n.132+63G>C
NM_004085.4:c.132+63G>C MANE Select NP_004076.1:n.132+63G>C
NM_001145951.2:c.132+63G>C NP_001139423.1:n.132+63G>C
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