Canonical Allele Identifier: CA2448281363
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs1926131733
gnomAD v4: X-101348297-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348297T>G , CM000685.2:g.101348297T>G GRCh38
NC_000023.10:g.100603285T>G , CM000685.1:g.100603285T>G GRCh37
NC_000023.9:g.100489941T>G NCBI36
NG_009616.1:g.42928A>C , LRG_128:g.42928A>C
NG_011734.1:g.5673A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+236A>C MANE Select ENSP00000361993.3:n.132+236A>C
ENST00000644112.2:c.*90A>C ENSP00000494385.1:n.*90A>C
ENST00000645279.1:c.*90A>C ENSP00000494239.1:n.*90A>C
ENST00000647480.1:n.279A>C
ENST00000372902.3:c.132+236A>C ENSP00000361993.3:n.132+236A>C
ENST00000480575.1:n.322A>C
NM_001145951.1:c.*90A>C NP_001139423.1:n.*90A>C
NM_004085.3:c.132+236A>C NP_004076.1:n.132+236A>C
NM_004085.4:c.132+236A>C MANE Select NP_004076.1:n.132+236A>C
NM_001145951.2:c.*90A>C NP_001139423.1:n.*90A>C
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