Canonical Allele Identifier: CA2321169273

Gene: TIMM44

Linked Data

• dbSNP Id: rs1599648909

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7934062C>A , CM000681.2:g.7934062C>A	GRCh38
NC_000019.9:g.7998947C>A , CM000681.1:g.7998947C>A	GRCh37
NC_000019.8:g.7904947C>A	NCBI36
NG_051180.1:g.14762G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.543+27G>T MANE Select	ENSP00000270538.2:n.543+27G>T
ENST00000270538.7:c.543+27G>T	ENSP00000270538.2:n.543+27G>T
ENST00000595831.5:c.530+27G>T
ENST00000595876.5:c.*231+27G>T	ENSP00000471596.1:n.*231+27G>T
ENST00000597926.1:c.447+27G>T	ENSP00000469389.1:n.447+27G>T
ENST00000600748.5:n.528+27G>T
NM_006351.3:c.543+27G>T	NP_006342.2:n.543+27G>T
NM_006351.4:c.543+27G>T MANE Select	NP_006342.2:n.543+27G>T