Canonical Allele Identifier: CA2576602635

Gene: TIMM44

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7943510A>G , CM000681.2:g.7943510A>G	GRCh38
NC_000019.9:g.8008395A>G , CM000681.1:g.8008395A>G	GRCh37
NC_000019.8:g.7914395A>G	NCBI36
NG_051180.1:g.5314T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.45+97T>C MANE Select	ENSP00000270538.2:n.45+97T>C
ENST00000270538.7:c.45+97T>C	ENSP00000270538.2:n.45+97T>C
ENST00000595831.5:c.29+97T>C
ENST00000595876.5:c.45+97T>C	ENSP00000471596.1:n.45+97T>C
ENST00000597926.1:c.45+97T>C	ENSP00000469389.1:n.45+97T>C
ENST00000600000.1:n.60+97T>C
ENST00000600748.5:n.30+97T>C
NM_006351.3:c.45+97T>C	NP_006342.2:n.45+97T>C
NM_006351.4:c.45+97T>C MANE Select	NP_006342.2:n.45+97T>C