Canonical Allele Identifier: CA403700096

Gene: TIMM44

Linked Data

• MyVariant Identifiers: chr19:g.7998873T>G (hg19) ; chr19:g.7933988T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933988T>G , CM000681.2:g.7933988T>G	GRCh38
NC_000019.9:g.7998873T>G , CM000681.1:g.7998873T>G	GRCh37
NC_000019.8:g.7904873T>G	NCBI36
NG_051180.1:g.14836A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.559A>C MANE Select	ENSP00000270538.2:p.Lys187Gln
ENST00000270538.7:c.559A>C	ENSP00000270538.2:p.Lys187Gln
ENST00000595831.5:c.546A>C
ENST00000595876.5:c.*247A>C	ENSP00000471596.1:n.*247A>C
ENST00000597926.1:c.463A>C	ENSP00000469389.1:p.Lys155Gln
ENST00000600748.5:n.544A>C
NM_006351.3:c.559A>C	NP_006342.2:p.Lys187Gln
NM_006351.4:c.559A>C MANE Select	NP_006342.2:p.Lys187Gln