Canonical Allele Identifier: CA356596

Gene: CHCHD10

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.[23767463C>G;23767592G>C] , CM000684.2:g.[23767463C>G;23767592G>C]	GRCh38
NC_000022.10:g.[24109650C>G;24109779G>C] , CM000684.1:g.[24109650C>G;24109779G>C]	GRCh37
NC_000022.9:g.[22439650C>G;22439779G>C]	NCBI36
NG_034223.1:g.[5381C>G;5510G>C]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484558.3:c.[43C>G;172G>C] MANE Select	ENSP00000418428.3:p.[Arg15Gly;Gly58Arg]
ENST00000401675.7:c.[43C>G;172G>C]	ENSP00000384973.3:p.[Arg15Gly;Gly58Arg]
ENST00000484558.2:c.[43C>G;172G>C]	ENSP00000418428.2:p.[Arg15Gly;Gly58Arg]
ENST00000517886.1:c.[42-52C>G;119G>C]	ENSP00000429976.1:p.Gly40Ala
ENST00000520222.1:c.[41+242C>G;41+371G>C]	ENSP00000430042.1:n.[41+242C>G;41+371G>C]
NM_001301339.1:c.[43C>G;172G>C]	NP_001288268.1:p.[Arg15Gly;Gly58Arg]
NM_213720.2:c.[43C>G;172G>C]	NP_998885.1:p.[Arg15Gly;Gly58Arg]
NR_125755.1:n.[140-52C>G;217G>C]
NR_125756.1:n.[139+242C>G;139+371G>C]
NM_001301339.2:c.[43C>G;172G>C]	NP_001288268.1:p.[Arg15Gly;Gly58Arg]
NM_213720.3:c.[43C>G;172G>C] MANE Select	NP_998885.1:p.[Arg15Gly;Gly58Arg]
NR_125755.2:n.[140-52C>G;217G>C]
NR_125756.2:n.[139+242C>G;139+371G>C]