Canonical Allele Identifier: CA517528572
Gene: TIMM8A HGNC NCBI

Linked Data

ClinVar Variation Id: 1908400
ClinVar RCV Id: RCV002596635
dbSNP Id: rs1555976418
gnomAD v2: X-100603635-A-G
gnomAD v4: X-101348647-A-G
MyVariant Identifiers: chrX:g.100603635A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101348647A>G , CM000685.2:g.101348647A>G GRCh38
NC_000023.10:g.100603635A>G , CM000685.1:g.100603635A>G GRCh37
NC_000023.9:g.100490291A>G NCBI36
NG_009616.1:g.42578T>C , LRG_128:g.42578T>C
NG_011734.1:g.5323T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.18T>C MANE Select ENSP00000361993.3:p.Ser6=
ENST00000644112.2:c.18T>C ENSP00000494385.1:p.Ser6=
ENST00000645279.1:c.18T>C ENSP00000494239.1:p.Ser6=
ENST00000372902.3:c.18T>C ENSP00000361993.3:p.Ser6=
ENST00000480575.1:n.103T>C
NM_001145951.1:c.18T>C NP_001139423.1:p.Ser6=
NM_004085.3:c.18T>C NP_004076.1:p.Ser6=
NM_004085.4:c.18T>C MANE Select NP_004076.1:p.Ser6=
NM_001145951.2:c.18T>C NP_001139423.1:p.Ser6=
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