Canonical Allele Identifier: CA751787945

Gene: CHCHD10

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23767598G>C , CM000684.2:g.23767598G>C	GRCh38
NC_000022.10:g.24109785G>C , CM000684.1:g.24109785G>C	GRCh37
NC_000022.9:g.22439785G>C	NCBI36
NG_034223.1:g.5375C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_213720.3:c.42-5C>G MANE Select	NP_998885.1:n.42-5C>G
ENST00000484558.3:c.42-5C>G MANE Select	ENSP00000418428.3:n.42-5C>G
NM_001301339.1:c.42-5C>G	NP_001288268.1:n.42-5C>G
NM_001301339.2:c.42-5C>G	NP_001288268.1:n.42-5C>G
NM_213720.2:c.42-5C>G	NP_998885.1:n.42-5C>G
NR_125755.1:n.140-58C>G
NR_125755.2:n.140-58C>G
NR_125756.1:n.139+236C>G
NR_125756.2:n.139+236C>G
ENST00000401675.7:c.42-5C>G	ENSP00000384973.3:n.42-5C>G
ENST00000484558.2:c.42-5C>G	ENSP00000418428.2:n.42-5C>G
ENST00000517886.1:c.42-58C>G	ENSP00000429976.1:n.42-58C>G
ENST00000520222.1:c.41+236C>G	ENSP00000430042.1:n.41+236C>G