Canonical Allele Identifier: CA2448281519
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs1926154592
gnomAD v4: X-101348707-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348707T>G , CM000685.2:g.101348707T>G GRCh38
NC_000023.10:g.100603695T>G , CM000685.1:g.100603695T>G GRCh37
NC_000023.9:g.100490351T>G NCBI36
NG_009616.1:g.42518A>C , LRG_128:g.42518A>C
NG_011734.1:g.5263A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.-43A>C MANE Select ENSP00000361993.3:n.-43A>C
ENST00000644112.2:c.-43A>C ENSP00000494385.1:n.-43A>C
ENST00000372902.3:c.-43A>C ENSP00000361993.3:n.-43A>C
ENST00000480575.1:n.43A>C
NM_001145951.1:c.-43A>C NP_001139423.1:n.-43A>C
NM_004085.3:c.-43A>C NP_004076.1:n.-43A>C
NM_004085.4:c.-43A>C MANE Select NP_004076.1:n.-43A>C
NM_001145951.2:c.-43A>C NP_001139423.1:n.-43A>C
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