Canonical Allele Identifier: CA413914306
Gene: TIMM8A HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.100601639T>A (hg19) chrX:g.101346651T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101346651T>A , CM000685.2:g.101346651T>A GRCh38
NC_000023.10:g.100601639T>A , CM000685.1:g.100601639T>A GRCh37
NC_000023.9:g.100488295T>A NCBI36
NG_011734.1:g.7319A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000372902.4:c.142A>T MANE Select ENSP00000361993.3:p.Met48Leu
ENST00000644112.2:c.*1736A>T ENSP00000494385.1:n.*1736A>T
ENST00000645279.1:c.*336A>T ENSP00000494239.1:n.*336A>T
ENST00000647480.1:n.659A>T
ENST00000372902.3:c.142A>T ENSP00000361993.3:p.Met48Leu
NM_004085.3:c.142A>T NP_004076.1:p.Met48Leu
NM_004085.4:c.142A>T MANE Select NP_004076.1:p.Met48Leu
NM_001145951.2:c.*1736A>T NP_001139423.1:n.*1736A>T
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