Canonical Allele Identifier: CA403699626

Gene: TIMM44

Linked Data

• MyVariant Identifiers: chr19:g.7998812A>C (hg19) ; chr19:g.7933927A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933927A>C , CM000681.2:g.7933927A>C	GRCh38
NC_000019.9:g.7998812A>C , CM000681.1:g.7998812A>C	GRCh37
NC_000019.8:g.7904812A>C	NCBI36
NG_051180.1:g.14897T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.620T>G MANE Select	ENSP00000270538.2:p.Leu207Arg
ENST00000270538.7:c.620T>G	ENSP00000270538.2:p.Leu207Arg
ENST00000595831.5:c.607T>G
ENST00000595876.5:c.*308T>G	ENSP00000471596.1:n.*308T>G
ENST00000597926.1:c.524T>G	ENSP00000469389.1:p.Leu175Arg
ENST00000598675.1:n.26T>G
ENST00000600748.5:n.605T>G
NM_006351.3:c.620T>G	NP_006342.2:p.Leu207Arg
NM_006351.4:c.620T>G MANE Select	NP_006342.2:p.Leu207Arg