Canonical Allele Identifier: CA403705667

Gene: TIMM44

Linked Data

• dbSNP Id: rs1452988472
• gnomAD v2: 19-8008490-A-C
• gnomAD v4: 19-7943605-A-C
• MyVariant Identifiers: chr19:g.8008490A>C (hg19) ; chr19:g.7943605A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7943605A>C , CM000681.2:g.7943605A>C	GRCh38
NC_000019.9:g.8008490A>C , CM000681.1:g.8008490A>C	GRCh37
NC_000019.8:g.7914490A>C	NCBI36
NG_051180.1:g.5219T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.45+2T>G MANE Select	ENSP00000270538.2:n.45+2T>G
ENST00000270538.7:c.45+2T>G	ENSP00000270538.2:n.45+2T>G
ENST00000595831.5:c.29+2T>G
ENST00000595876.5:c.45+2T>G	ENSP00000471596.1:n.45+2T>G
ENST00000597926.1:c.45+2T>G	ENSP00000469389.1:n.45+2T>G
ENST00000600000.1:n.60+2T>G
ENST00000600748.5:n.30+2T>G
NM_006351.3:c.45+2T>G	NP_006342.2:n.45+2T>G
NM_006351.4:c.45+2T>G MANE Select	NP_006342.2:n.45+2T>G