Canonical Allele Identifier: CA517527539
Gene: TIMM8A HGNC NCBI

Linked Data

dbSNP Id: rs2147416137
gnomAD v4: X-101346637-C-T
MyVariant Identifiers: chrX:g.100601625C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101346637C>T , CM000685.2:g.101346637C>T GRCh38
NC_000023.10:g.100601625C>T , CM000685.1:g.100601625C>T GRCh37
NC_000023.9:g.100488281C>T NCBI36
NG_011734.1:g.7333G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.156G>A MANE Select ENSP00000361993.3:p.Gly52=
ENST00000644112.2:c.*1750G>A ENSP00000494385.1:n.*1750G>A
ENST00000645279.1:c.*350G>A ENSP00000494239.1:n.*350G>A
ENST00000647480.1:n.673G>A
ENST00000372902.3:c.156G>A ENSP00000361993.3:p.Gly52=
NM_004085.3:c.156G>A NP_004076.1:p.Gly52=
NM_004085.4:c.156G>A MANE Select NP_004076.1:p.Gly52=
NM_001145951.2:c.*1750G>A NP_001139423.1:n.*1750G>A
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