Canonical Allele Identifier: CA413914307
Gene: TIMM8A HGNC NCBI

Linked Data

gnomAD v4: X-101346651-T-C
MyVariant Identifiers: chrX:g.100601639T>C (hg19) chrX:g.101346651T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000372902.4:c.142A>G MANE Select ENSP00000361993.3:p.Met48Val
ENST00000644112.2:c.*1736A>G ENSP00000494385.1:n.*1736A>G
ENST00000645279.1:c.*336A>G ENSP00000494239.1:n.*336A>G
ENST00000647480.1:n.659A>G
ENST00000372902.3:c.142A>G ENSP00000361993.3:p.Met48Val
NM_004085.3:c.142A>G NP_004076.1:p.Met48Val
NM_004085.4:c.142A>G MANE Select NP_004076.1:p.Met48Val
NM_001145951.2:c.*1736A>G NP_001139423.1:n.*1736A>G
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