Canonical Allele Identifier: CA505415480

Gene: TIMM44

Linked Data

• MyVariant Identifiers: chr19:g.7998754T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933869T>G , CM000681.2:g.7933869T>G	GRCh38
NC_000019.9:g.7998754T>G , CM000681.1:g.7998754T>G	GRCh37
NC_000019.8:g.7904754T>G	NCBI36
NG_051180.1:g.14955A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.678A>C MANE Select	ENSP00000270538.2:p.Pro226=
ENST00000270538.7:c.678A>C	ENSP00000270538.2:p.Pro226=
ENST00000595831.5:c.665A>C
ENST00000595876.5:c.*366A>C	ENSP00000471596.1:n.*366A>C
ENST00000597926.1:c.582A>C	ENSP00000469389.1:p.Pro194=
ENST00000598675.1:n.84A>C
ENST00000600748.5:n.663A>C
NM_006351.3:c.678A>C	NP_006342.2:p.Pro226=
NM_006351.4:c.678A>C MANE Select	NP_006342.2:p.Pro226=