Canonical Allele Identifier: CA2592824

Gene: CHCHD6

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.126957475G>A , CM000665.2:g.126957475G>A	GRCh38
NC_000003.11:g.126676318G>A , CM000665.1:g.126676318G>A	GRCh37
NC_000003.10:g.128159008G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290913.8:c.626G>A MANE Select	ENSP00000290913.3:p.Arg209Gln
ENST00000290913.7:c.626G>A	ENSP00000290913.3:p.Arg209Gln
ENST00000503119.5:c.*294G>A	ENSP00000427517.1:n.*294G>A
ENST00000504973.5:n.283G>A
ENST00000508789.5:c.629G>A	ENSP00000422912.1:p.Arg210Gln
ENST00000510044.1:n.383G>A
ENST00000513253.1:c.418G>A
NM_032343.2:c.626G>A	NP_115719.1:p.Arg209Gln
XM_011513233.1:c.629G>A	XP_011511535.1:p.Arg210Gln
XM_011513234.1:c.518G>A	XP_011511536.1:p.Arg173Gln
XR_924192.1:n.980G>A
XR_924193.1:n.820G>A
XR_924194.1:n.878G>A
XR_924195.1:n.861G>A
XR_924196.1:n.1013G>A
XR_924197.1:n.922G>A
XR_924198.1:n.952G>A
XR_924199.1:n.949G>A
XR_924200.1:n.789G>A
NM_001320610.1:c.629G>A	NP_001307539.1:p.Arg210Gln
XM_024453792.1:c.515G>A	XP_024309560.1:p.Arg172Gln
XR_924192.2:n.980G>A
XR_924193.2:n.820G>A
XR_924195.2:n.861G>A
XR_924196.2:n.1013G>A
XR_924198.2:n.952G>A
XR_924199.2:n.949G>A
NM_001320610.2:c.629G>A	NP_001307539.1:p.Arg210Gln
NM_032343.3:c.626G>A MANE Select	NP_115719.1:p.Arg209Gln