Canonical Allele Identifier: CA403699931
Gene: TIMM44 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

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