Canonical Allele Identifier: CA403700045
Gene: TIMM44 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7933982C>T , CM000681.2:g.7933982C>T GRCh38
NC_000019.9:g.7998867C>T , CM000681.1:g.7998867C>T GRCh37
NC_000019.8:g.7904867C>T NCBI36
NG_051180.1:g.14842G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000270538.8:c.565G>A MANE Select ENSP00000270538.2:p.Glu189Lys
ENST00000270538.7:c.565G>A ENSP00000270538.2:p.Glu189Lys
ENST00000595831.5:c.552G>A
ENST00000595876.5:c.*253G>A ENSP00000471596.1:n.*253G>A
ENST00000597926.1:c.469G>A ENSP00000469389.1:p.Glu157Lys
ENST00000600748.5:n.550G>A
NM_006351.3:c.565G>A NP_006342.2:p.Glu189Lys
NM_006351.4:c.565G>A MANE Select NP_006342.2:p.Glu189Lys