Canonical Allele Identifier: CA1835592

Gene: CHCHD5

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112586316T>G , CM000664.2:g.112586316T>G	GRCh38
NC_000002.11:g.113343893T>G , CM000664.1:g.113343893T>G	GRCh37
NC_000002.10:g.113060364T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_032309.4:c.260T>G MANE Select	NP_115685.1:p.Leu87Arg
ENST00000324913.10:c.260T>G MANE Select	ENSP00000325655.5:p.Leu87Arg
NM_001304353.1:c.146T>G	NP_001291282.1:p.Leu49Arg
NM_001304353.2:c.146T>G	NP_001291282.1:p.Leu49Arg
NM_001304354.1:c.146T>G	NP_001291283.1:p.Leu49Arg
NM_001304354.2:c.146T>G	NP_001291283.1:p.Leu49Arg
NM_001371322.1:c.146T>G	NP_001358251.1:p.Leu49Arg
NM_001371323.1:c.146T>G	NP_001358252.1:p.Leu49Arg
NM_032309.3:c.260T>G	NP_115685.1:p.Leu87Arg
NR_163920.1:n.308T>G
ENST00000324913.9:c.260T>G	ENSP00000325655.5:p.Leu87Arg
ENST00000409719.1:c.260T>G	ENSP00000386994.1:p.Leu87Arg
ENST00000454841.5:c.*198T>G	ENSP00000412731.1:n.*198T>G
ENST00000469030.1:n.305T>G
ENST00000489052.5:n.505T>G
XM_005263824.2:c.260T>G	XP_005263881.1:p.Leu87Arg
XM_005263824.4:c.260T>G	XP_005263881.1:p.Leu87Arg