Canonical Allele Identifier: CA403700120
Gene: TIMM44 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933994A>G , CM000681.2:g.7933994A>G GRCh38
NC_000019.9:g.7998879A>G , CM000681.1:g.7998879A>G GRCh37
NC_000019.8:g.7904879A>G NCBI36
NG_051180.1:g.14830T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.553T>C MANE Select ENSP00000270538.2:p.Ser185Pro
ENST00000270538.7:c.553T>C ENSP00000270538.2:p.Ser185Pro
ENST00000595831.5:c.540T>C
ENST00000595876.5:c.*241T>C ENSP00000471596.1:n.*241T>C
ENST00000597926.1:c.457T>C ENSP00000469389.1:p.Ser153Pro
ENST00000600748.5:n.538T>C
NM_006351.3:c.553T>C NP_006342.2:p.Ser185Pro
NM_006351.4:c.553T>C MANE Select NP_006342.2:p.Ser185Pro