Canonical Allele Identifier: CA2321169227
Gene: TIMM44 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933987T= , CM000681.2:g.7933987T= GRCh38
NC_000019.9:g.7998872T= , CM000681.1:g.7998872T= GRCh37
NC_000019.8:g.7904872T= NCBI36
NG_051180.1:g.14837A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.560A= MANE Select ENSP00000270538.2:p.Lys187=
ENST00000270538.7:c.560A= ENSP00000270538.2:p.Lys187=
ENST00000595831.5:c.547A=
ENST00000595876.5:c.*248A= ENSP00000471596.1:n.*248A=
ENST00000597926.1:c.464A= ENSP00000469389.1:p.Lys155=
ENST00000600748.5:n.545A=
NM_006351.3:c.560A= NP_006342.2:p.Lys187=
NM_006351.4:c.560A= MANE Select NP_006342.2:p.Lys187=