Canonical Allele Identifier: CA403699811

Gene: TIMM44

Linked Data

• MyVariant Identifiers: chr19:g.7998834G>T (hg19) ; chr19:g.7933949G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933949G>T , CM000681.2:g.7933949G>T	GRCh38
NC_000019.9:g.7998834G>T , CM000681.1:g.7998834G>T	GRCh37
NC_000019.8:g.7904834G>T	NCBI36
NG_051180.1:g.14875C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.598C>A MANE Select	ENSP00000270538.2:p.Pro200Thr
ENST00000270538.7:c.598C>A	ENSP00000270538.2:p.Pro200Thr
ENST00000595831.5:c.585C>A
ENST00000595876.5:c.*286C>A	ENSP00000471596.1:n.*286C>A
ENST00000597926.1:c.502C>A	ENSP00000469389.1:p.Pro168Thr
ENST00000598675.1:n.4C>A
ENST00000600748.5:n.583C>A
NM_006351.3:c.598C>A	NP_006342.2:p.Pro200Thr
NM_006351.4:c.598C>A MANE Select	NP_006342.2:p.Pro200Thr