Canonical Allele Identifier: CA413914079
Gene: TIMM8A HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.100601630G>A (hg19) chrX:g.101346642G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101346642G>A , CM000685.2:g.101346642G>A GRCh38
NC_000023.10:g.100601630G>A , CM000685.1:g.100601630G>A GRCh37
NC_000023.9:g.100488286G>A NCBI36
NG_011734.1:g.7328C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.151C>T MANE Select ENSP00000361993.3:p.Pro51Ser
ENST00000644112.2:c.*1745C>T ENSP00000494385.1:n.*1745C>T
ENST00000645279.1:c.*345C>T ENSP00000494239.1:n.*345C>T
ENST00000647480.1:n.668C>T
ENST00000372902.3:c.151C>T ENSP00000361993.3:p.Pro51Ser
NM_004085.3:c.151C>T NP_004076.1:p.Pro51Ser
NM_004085.4:c.151C>T MANE Select NP_004076.1:p.Pro51Ser
NM_001145951.2:c.*1745C>T NP_001139423.1:n.*1745C>T
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