Canonical Allele Identifier: CA2592828

Gene: CHCHD6

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.126957484C>T , CM000665.2:g.126957484C>T	GRCh38
NC_000003.11:g.126676327C>T , CM000665.1:g.126676327C>T	GRCh37
NC_000003.10:g.128159017C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290913.8:c.635C>T MANE Select	ENSP00000290913.3:p.Pro212Leu
ENST00000290913.7:c.635C>T	ENSP00000290913.3:p.Pro212Leu
ENST00000503119.5:c.*303C>T	ENSP00000427517.1:n.*303C>T
ENST00000504973.5:n.292C>T
ENST00000508789.5:c.638C>T	ENSP00000422912.1:p.Pro213Leu
ENST00000510044.1:n.392C>T
ENST00000513253.1:c.427C>T
NM_032343.2:c.635C>T	NP_115719.1:p.Pro212Leu
XM_011513233.1:c.638C>T	XP_011511535.1:p.Pro213Leu
XM_011513234.1:c.527C>T	XP_011511536.1:p.Pro176Leu
XR_924192.1:n.989C>T
XR_924193.1:n.829C>T
XR_924194.1:n.887C>T
XR_924195.1:n.870C>T
XR_924196.1:n.1022C>T
XR_924197.1:n.931C>T
XR_924198.1:n.961C>T
XR_924199.1:n.958C>T
XR_924200.1:n.798C>T
NM_001320610.1:c.638C>T	NP_001307539.1:p.Pro213Leu
XM_024453792.1:c.524C>T	XP_024309560.1:p.Pro175Leu
XR_924192.2:n.989C>T
XR_924193.2:n.829C>T
XR_924195.2:n.870C>T
XR_924196.2:n.1022C>T
XR_924198.2:n.961C>T
XR_924199.2:n.958C>T
NM_001320610.2:c.638C>T	NP_001307539.1:p.Pro213Leu
NM_032343.3:c.635C>T MANE Select	NP_115719.1:p.Pro212Leu