Canonical Allele Identifier: CA2592766

Gene: CHCHD6

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.126914693A>G , CM000665.2:g.126914693A>G	GRCh38
NC_000003.11:g.126633536A>G , CM000665.1:g.126633536A>G	GRCh37
NC_000003.10:g.128116226A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000290913.8:c.509A>G MANE Select	ENSP00000290913.3:p.Tyr170Cys
ENST00000290913.7:c.509A>G	ENSP00000290913.3:p.Tyr170Cys
ENST00000503119.5:c.*177A>G	ENSP00000427517.1:n.*177A>G
ENST00000508789.5:c.512A>G	ENSP00000422912.1:p.Tyr171Cys
ENST00000513253.1:c.310A>G
ENST00000514908.5:n.579A>G
ENST00000515867.1:n.99A>G
NM_032343.2:c.509A>G	NP_115719.1:p.Tyr170Cys
XM_011513233.1:c.512A>G	XP_011511535.1:p.Tyr171Cys
XM_011513234.1:c.401A>G	XP_011511536.1:p.Tyr134Cys
XR_924192.1:n.584A>G
XR_924193.1:n.584A>G
XR_924194.1:n.584A>G
XR_924195.1:n.584A>G
XR_924196.1:n.584A>G
XR_924197.1:n.584A>G
XR_924198.1:n.584A>G
XR_924199.1:n.581A>G
XR_924200.1:n.672A>G
NM_001320610.1:c.512A>G	NP_001307539.1:p.Tyr171Cys
XM_017007320.1:c.512A>G	XP_016862809.1:p.Tyr171Cys
XM_017007321.1:c.512A>G	XP_016862810.1:p.Tyr171Cys
XM_024453792.1:c.398A>G	XP_024309560.1:p.Tyr133Cys
XR_924192.2:n.584A>G
XR_924193.2:n.584A>G
XR_924195.2:n.584A>G
XR_924196.2:n.584A>G
XR_924198.2:n.584A>G
XR_924199.2:n.581A>G
NM_001320610.2:c.512A>G	NP_001307539.1:p.Tyr171Cys
NM_032343.3:c.509A>G MANE Select	NP_115719.1:p.Tyr170Cys