Canonical Allele Identifier: CA2592812

Gene: CHCHD6

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.126957428G>A , CM000665.2:g.126957428G>A	GRCh38
NC_000003.11:g.126676271G>A , CM000665.1:g.126676271G>A	GRCh37
NC_000003.10:g.128158961G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290913.8:c.579G>A MANE Select	ENSP00000290913.3:p.Val193=
ENST00000290913.7:c.579G>A	ENSP00000290913.3:p.Val193=
ENST00000503119.5:c.*247G>A	ENSP00000427517.1:n.*247G>A
ENST00000504973.5:n.236G>A
ENST00000508789.5:c.582G>A	ENSP00000422912.1:p.Val194=
ENST00000510044.1:n.336G>A
ENST00000513253.1:c.371G>A
NM_032343.2:c.579G>A	NP_115719.1:p.Val193=
XM_011513233.1:c.582G>A	XP_011511535.1:p.Val194=
XM_011513234.1:c.471G>A	XP_011511536.1:p.Val157=
XR_924192.1:n.933G>A
XR_924193.1:n.773G>A
XR_924194.1:n.831G>A
XR_924195.1:n.814G>A
XR_924196.1:n.966G>A
XR_924197.1:n.875G>A
XR_924198.1:n.905G>A
XR_924199.1:n.902G>A
XR_924200.1:n.742G>A
NM_001320610.1:c.582G>A	NP_001307539.1:p.Val194=
XM_024453792.1:c.468G>A	XP_024309560.1:p.Val156=
XR_924192.2:n.933G>A
XR_924193.2:n.773G>A
XR_924195.2:n.814G>A
XR_924196.2:n.966G>A
XR_924198.2:n.905G>A
XR_924199.2:n.902G>A
NM_001320610.2:c.582G>A	NP_001307539.1:p.Val194=
NM_032343.3:c.579G>A MANE Select	NP_115719.1:p.Val193=