Canonical Allele Identifier: CA2321169233
Gene: TIMM44 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7934000C= , CM000681.2:g.7934000C= GRCh38
NC_000019.9:g.7998885C= , CM000681.1:g.7998885C= GRCh37
NC_000019.8:g.7904885C= NCBI36
NG_051180.1:g.14824G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.547G= MANE Select ENSP00000270538.2:p.Val183=
ENST00000270538.7:c.547G= ENSP00000270538.2:p.Val183=
ENST00000595831.5:c.534G=
ENST00000595876.5:c.*235G= ENSP00000471596.1:n.*235G=
ENST00000597926.1:c.451G= ENSP00000469389.1:p.Val151=
ENST00000600748.5:n.532G=
NM_006351.3:c.547G= NP_006342.2:p.Val183=
NM_006351.4:c.547G= MANE Select NP_006342.2:p.Val183=