Canonical Allele Identifier: CA403700083

Gene: TIMM44

Linked Data

• MyVariant Identifiers: chr19:g.7998872T>G (hg19) ; chr19:g.7933987T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933987T>G , CM000681.2:g.7933987T>G	GRCh38
NC_000019.9:g.7998872T>G , CM000681.1:g.7998872T>G	GRCh37
NC_000019.8:g.7904872T>G	NCBI36
NG_051180.1:g.14837A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.560A>C MANE Select	ENSP00000270538.2:p.Lys187Thr
ENST00000270538.7:c.560A>C	ENSP00000270538.2:p.Lys187Thr
ENST00000595831.5:c.547A>C
ENST00000595876.5:c.*248A>C	ENSP00000471596.1:n.*248A>C
ENST00000597926.1:c.464A>C	ENSP00000469389.1:p.Lys155Thr
ENST00000600748.5:n.545A>C
NM_006351.3:c.560A>C	NP_006342.2:p.Lys187Thr
NM_006351.4:c.560A>C MANE Select	NP_006342.2:p.Lys187Thr