Canonical Allele Identifier: CA505415487

Gene: TIMM44

Linked Data

• MyVariant Identifiers: chr19:g.7998760A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933875A>G , CM000681.2:g.7933875A>G	GRCh38
NC_000019.9:g.7998760A>G , CM000681.1:g.7998760A>G	GRCh37
NC_000019.8:g.7904760A>G	NCBI36
NG_051180.1:g.14949T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.672T>C MANE Select	ENSP00000270538.2:p.Phe224=
ENST00000270538.7:c.672T>C	ENSP00000270538.2:p.Phe224=
ENST00000595831.5:c.659T>C
ENST00000595876.5:c.*360T>C	ENSP00000471596.1:n.*360T>C
ENST00000597926.1:c.576T>C	ENSP00000469389.1:p.Phe192=
ENST00000598675.1:n.78T>C
ENST00000600748.5:n.657T>C
NM_006351.3:c.672T>C	NP_006342.2:p.Phe224=
NM_006351.4:c.672T>C MANE Select	NP_006342.2:p.Phe224=