Canonical Allele Identifier: CA403699929
Gene: TIMM44 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933968G>C , CM000681.2:g.7933968G>C GRCh38
NC_000019.9:g.7998853G>C , CM000681.1:g.7998853G>C GRCh37
NC_000019.8:g.7904853G>C NCBI36
NG_051180.1:g.14856C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.579C>G MANE Select ENSP00000270538.2:p.Ser193Arg
ENST00000270538.7:c.579C>G ENSP00000270538.2:p.Ser193Arg
ENST00000595831.5:c.566C>G
ENST00000595876.5:c.*267C>G ENSP00000471596.1:n.*267C>G
ENST00000597926.1:c.483C>G ENSP00000469389.1:p.Ser161Arg
ENST00000600748.5:n.564C>G
NM_006351.3:c.579C>G NP_006342.2:p.Ser193Arg
NM_006351.4:c.579C>G MANE Select NP_006342.2:p.Ser193Arg