Canonical Allele Identifier: CA2694291998
Gene: TIMM8A HGNC NCBI

Linked Data

gnomAD v4: X-101348211-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348211C>G , CM000685.2:g.101348211C>G GRCh38
NC_000023.10:g.100603199C>G , CM000685.1:g.100603199C>G GRCh37
NC_000023.9:g.100489855C>G NCBI36
NG_009616.1:g.43014G>C , LRG_128:g.43014G>C
NG_011734.1:g.5759G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.132+322G>C MANE Select ENSP00000361993.3:n.132+322G>C
ENST00000644112.2:c.*176G>C ENSP00000494385.1:n.*176G>C
ENST00000645279.1:c.*176G>C ENSP00000494239.1:n.*176G>C
ENST00000647480.1:n.365G>C
ENST00000372902.3:c.132+322G>C ENSP00000361993.3:n.132+322G>C
ENST00000480575.1:n.408G>C
NM_001145951.1:c.*176G>C NP_001139423.1:n.*176G>C
NM_004085.3:c.132+322G>C NP_004076.1:n.132+322G>C
NM_004085.4:c.132+322G>C MANE Select NP_004076.1:n.132+322G>C
NM_001145951.2:c.*176G>C NP_001139423.1:n.*176G>C
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