Canonical Allele Identifier: CA403700034

Gene: TIMM44

Linked Data

• dbSNP Id: rs1984066169
• MyVariant Identifiers: chr19:g.7998866T>C (hg19) ; chr19:g.7933981T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7933981T>C , CM000681.2:g.7933981T>C	GRCh38
NC_000019.9:g.7998866T>C , CM000681.1:g.7998866T>C	GRCh37
NC_000019.8:g.7904866T>C	NCBI36
NG_051180.1:g.14843A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.566A>G MANE Select	ENSP00000270538.2:p.Glu189Gly
ENST00000270538.7:c.566A>G	ENSP00000270538.2:p.Glu189Gly
ENST00000595831.5:c.553A>G
ENST00000595876.5:c.*254A>G	ENSP00000471596.1:n.*254A>G
ENST00000597926.1:c.470A>G	ENSP00000469389.1:p.Glu157Gly
ENST00000600748.5:n.551A>G
NM_006351.3:c.566A>G	NP_006342.2:p.Glu189Gly
NM_006351.4:c.566A>G MANE Select	NP_006342.2:p.Glu189Gly