Canonical Allele Identifier: CA403699471

Gene: TIMM44

Linked Data

• MyVariant Identifiers: chr19:g.7998793A>T (hg19) ; chr19:g.7933908A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933908A>T , CM000681.2:g.7933908A>T	GRCh38
NC_000019.9:g.7998793A>T , CM000681.1:g.7998793A>T	GRCh37
NC_000019.8:g.7904793A>T	NCBI36
NG_051180.1:g.14916T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.639T>A MANE Select	ENSP00000270538.2:p.Phe213Leu
ENST00000270538.7:c.639T>A	ENSP00000270538.2:p.Phe213Leu
ENST00000595831.5:c.626T>A
ENST00000595876.5:c.*327T>A	ENSP00000471596.1:n.*327T>A
ENST00000597926.1:c.543T>A	ENSP00000469389.1:p.Phe181Leu
ENST00000598675.1:n.45T>A
ENST00000600748.5:n.624T>A
NM_006351.3:c.639T>A	NP_006342.2:p.Phe213Leu
NM_006351.4:c.639T>A MANE Select	NP_006342.2:p.Phe213Leu