Canonical Allele Identifier: CA10145228

Gene: CHCHD10

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23766101C>G , CM000684.2:g.23766101C>G	GRCh38
NC_000022.10:g.24108288C>G , CM000684.1:g.24108288C>G	GRCh37
NC_000022.9:g.22438288C>G	NCBI36
NG_034223.1:g.6872G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484558.3:c.409+27G>C MANE Select	ENSP00000418428.3:n.409+27G>C
ENST00000401675.7:c.430+27G>C	ENSP00000384973.3:n.430+27G>C
ENST00000484558.2:c.409+27G>C	ENSP00000418428.2:n.409+27G>C
ENST00000517886.1:c.*56+27G>C	ENSP00000429976.1:n.*56+27G>C
ENST00000520222.1:c.*21+27G>C	ENSP00000430042.1:n.*21+27G>C
ENST00000523865.1:n.337+27G>C
NM_001301339.1:c.430+27G>C	NP_001288268.1:n.430+27G>C
NM_213720.2:c.409+27G>C	NP_998885.1:n.409+27G>C
NR_125755.1:n.454+27G>C
NR_125756.1:n.287+27G>C
NM_001301339.2:c.430+27G>C	NP_001288268.1:n.430+27G>C
NM_213720.3:c.409+27G>C MANE Select	NP_998885.1:n.409+27G>C
NR_125755.2:n.454+27G>C
NR_125756.2:n.287+27G>C