Canonical Allele Identifier: CA505415634

Gene: TIMM44

Linked Data

• MyVariant Identifiers: chr19:g.7998880C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933995C>T , CM000681.2:g.7933995C>T	GRCh38
NC_000019.9:g.7998880C>T , CM000681.1:g.7998880C>T	GRCh37
NC_000019.8:g.7904880C>T	NCBI36
NG_051180.1:g.14829G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.552G>A MANE Select	ENSP00000270538.2:p.Glu184=
ENST00000270538.7:c.552G>A	ENSP00000270538.2:p.Glu184=
ENST00000595831.5:c.539G>A
ENST00000595876.5:c.*240G>A	ENSP00000471596.1:n.*240G>A
ENST00000597926.1:c.456G>A	ENSP00000469389.1:p.Glu152=
ENST00000600748.5:n.537G>A
NM_006351.3:c.552G>A	NP_006342.2:p.Glu184=
NM_006351.4:c.552G>A MANE Select	NP_006342.2:p.Glu184=