Canonical Allele Identifier: CA2321169221
Gene: TIMM44 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933970T= , CM000681.2:g.7933970T= GRCh38
NC_000019.9:g.7998855T= , CM000681.1:g.7998855T= GRCh37
NC_000019.8:g.7904855T= NCBI36
NG_051180.1:g.14854A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.577A= MANE Select ENSP00000270538.2:p.Ser193=
ENST00000270538.7:c.577A= ENSP00000270538.2:p.Ser193=
ENST00000595831.5:c.564A=
ENST00000595876.5:c.*265A= ENSP00000471596.1:n.*265A=
ENST00000597926.1:c.481A= ENSP00000469389.1:p.Ser161=
ENST00000600748.5:n.562A=
NM_006351.3:c.577A= NP_006342.2:p.Ser193=
NM_006351.4:c.577A= MANE Select NP_006342.2:p.Ser193=