Canonical Allele Identifier: CA10145291

Gene: CHCHD10

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23767411C>T , CM000684.2:g.23767411C>T	GRCh38
NC_000022.10:g.24109598C>T , CM000684.1:g.24109598C>T	GRCh37
NC_000022.9:g.22439598C>T	NCBI36
NG_034223.1:g.5562G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_213720.3:c.224G>A MANE Select	NP_998885.1:p.Gly75Glu
ENST00000484558.3:c.224G>A MANE Select	ENSP00000418428.3:p.Gly75Glu
NM_001301339.1:c.224G>A	NP_001288268.1:p.Gly75Glu
NM_001301339.2:c.224G>A	NP_001288268.1:p.Gly75Glu
NM_213720.2:c.224G>A	NP_998885.1:p.Gly75Glu
NR_125755.1:n.269G>A
NR_125755.2:n.269G>A
NR_125756.1:n.139+423G>A
NR_125756.2:n.139+423G>A
ENST00000401675.7:c.224G>A	ENSP00000384973.3:p.Gly75Glu
ENST00000484558.2:c.224G>A	ENSP00000418428.2:p.Gly75Glu
ENST00000517886.1:c.171G>A	ENSP00000429976.1:p.Arg57=
ENST00000520222.1:c.41+423G>A	ENSP00000430042.1:n.41+423G>A