Canonical Allele Identifier: CA354418893

Gene: CHCHD6

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.126727153C>T , CM000665.2:g.126727153C>T	GRCh38
NC_000003.11:g.126445996C>T , CM000665.1:g.126445996C>T	GRCh37
NC_000003.10:g.127928686C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032343.3:c.163C>T MANE Select	NP_115719.1:p.Leu55Phe
ENST00000290913.8:c.163C>T MANE Select	ENSP00000290913.3:p.Leu55Phe
NM_001320610.1:c.163C>T	NP_001307539.1:p.Leu55Phe
NM_001320610.2:c.163C>T	NP_001307539.1:p.Leu55Phe
NM_032343.2:c.163C>T	NP_115719.1:p.Leu55Phe
ENST00000290913.7:c.163C>T	ENSP00000290913.3:p.Leu55Phe
ENST00000503119.5:c.163C>T	ENSP00000427517.1:p.Leu55Phe
ENST00000508789.5:c.163C>T	ENSP00000422912.1:p.Leu55Phe
ENST00000514908.5:n.233C>T
XM_011513233.1:c.163C>T	XP_011511535.1:p.Leu55Phe
XM_011513234.1:c.52C>T	XP_011511536.1:p.Leu18Phe
XM_011513235.1:c.163C>T	XP_011511537.1:p.Leu55Phe
XM_011513235.3:c.163C>T	XP_011511537.1:p.Leu55Phe
XM_017007320.1:c.163C>T	XP_016862809.1:p.Leu55Phe
XM_017007321.1:c.163C>T	XP_016862810.1:p.Leu55Phe
XM_017007322.2:c.163C>T	XP_016862811.1:p.Leu55Phe
XM_024453792.1:c.52C>T	XP_024309560.1:p.Leu18Phe
XR_924192.1:n.235C>T
XR_924192.2:n.235C>T
XR_924193.1:n.235C>T
XR_924193.2:n.235C>T
XR_924194.1:n.235C>T
XR_924195.1:n.235C>T
XR_924195.2:n.235C>T
XR_924196.1:n.235C>T
XR_924196.2:n.235C>T
XR_924197.1:n.235C>T
XR_924198.1:n.235C>T
XR_924198.2:n.235C>T
XR_924199.1:n.235C>T
XR_924199.2:n.235C>T
XR_924200.1:n.235C>T