Canonical Allele Identifier: CA2576602491

Gene: TIMM44

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.7934018C>G , CM000681.2:g.7934018C>G	GRCh38
NC_000019.9:g.7998903C>G , CM000681.1:g.7998903C>G	GRCh37
NC_000019.8:g.7904903C>G	NCBI36
NG_051180.1:g.14806G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270538.8:c.544-15G>C MANE Select	ENSP00000270538.2:n.544-15G>C
ENST00000270538.7:c.544-15G>C	ENSP00000270538.2:n.544-15G>C
ENST00000595831.5:c.531-15G>C
ENST00000595876.5:c.*232-15G>C	ENSP00000471596.1:n.*232-15G>C
ENST00000597926.1:c.448-15G>C	ENSP00000469389.1:n.448-15G>C
ENST00000600748.5:n.529-15G>C
NM_006351.3:c.544-15G>C	NP_006342.2:n.544-15G>C
NM_006351.4:c.544-15G>C MANE Select	NP_006342.2:n.544-15G>C