Canonical Allele Identifier: CA369464051

Gene: CHCHD3

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.132885667C>T , CM000669.2:g.132885667C>T	GRCh38
NC_000007.13:g.132570427C>T , CM000669.1:g.132570427C>T	GRCh37
NC_000007.12:g.132220967C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_017812.4:c.448G>A MANE Select	NP_060282.1:p.Glu150Lys
ENST00000262570.10:c.448G>A MANE Select	ENSP00000262570.5:p.Glu150Lys
NM_001317177.1:c.463G>A	NP_001304106.1:p.Glu155Lys
NM_001317177.2:c.463G>A	NP_001304106.1:p.Glu155Lys
NM_017812.2:c.448G>A	NP_060282.1:p.Glu150Lys
NM_017812.3:c.448G>A	NP_060282.1:p.Glu150Lys
NR_133671.1:n.759G>A
NR_133671.2:n.691G>A
ENST00000262570.9:c.448G>A	ENSP00000262570.5:p.Glu150Lys
ENST00000423635.5:c.538G>A	ENSP00000410425.1:p.Glu180Lys
ENST00000448878.5:c.463G>A	ENSP00000389297.1:p.Glu155Lys
ENST00000448878.6:c.463G>A	ENSP00000389297.2:p.Glu155Lys
ENST00000466644.5:n.568G>A
ENST00000476546.5:n.494G>A
ENST00000496427.5:n.358G>A