Canonical Allele Identifier: CA413912554
Gene: TIMM8A HGNC NCBI

Linked Data

ClinVar Variation Id: 505064
ClinVar RCV Id: RCV000603847
dbSNP Id: rs1443740723
gnomAD v4: X-101346511-G-T
MyVariant Identifiers: chrX:g.100601499G>T (hg19) chrX:g.101346511G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101346511G>T , CM000685.2:g.101346511G>T GRCh38
NC_000023.10:g.100601499G>T , CM000685.1:g.100601499G>T GRCh37
NC_000023.9:g.100488155G>T NCBI36
NG_011734.1:g.7459C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.282C>A MANE Select ENSP00000361993.3:p.Ser94Arg
ENST00000644112.2:c.*1876C>A ENSP00000494385.1:n.*1876C>A
ENST00000645279.1:c.*476C>A ENSP00000494239.1:n.*476C>A
ENST00000647480.1:n.799C>A
ENST00000372902.3:c.282C>A ENSP00000361993.3:p.Ser94Arg
NM_004085.3:c.282C>A NP_004076.1:p.Ser94Arg
NM_004085.4:c.282C>A MANE Select NP_004076.1:p.Ser94Arg
NM_001145951.2:c.*1876C>A NP_001139423.1:n.*1876C>A
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