Canonical Allele Identifier: CA413914225
Gene: TIMM8A HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.100601636C>G (hg19) chrX:g.101346648C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101346648C>G , CM000685.2:g.101346648C>G GRCh38
NC_000023.10:g.100601636C>G , CM000685.1:g.100601636C>G GRCh37
NC_000023.9:g.100488292C>G NCBI36
NG_011734.1:g.7322G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372902.4:c.145G>C MANE Select ENSP00000361993.3:p.Asp49His
ENST00000644112.2:c.*1739G>C ENSP00000494385.1:n.*1739G>C
ENST00000645279.1:c.*339G>C ENSP00000494239.1:n.*339G>C
ENST00000647480.1:n.662G>C
ENST00000372902.3:c.145G>C ENSP00000361993.3:p.Asp49His
NM_004085.3:c.145G>C NP_004076.1:p.Asp49His
NM_004085.4:c.145G>C MANE Select NP_004076.1:p.Asp49His
NM_001145951.2:c.*1739G>C NP_001139423.1:n.*1739G>C
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