Canonical Allele Identifier: CA10145261

Gene: CHCHD10

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23766225G>C , CM000684.2:g.23766225G>C	GRCh38
NC_000022.10:g.24108412G>C , CM000684.1:g.24108412G>C	GRCh37
NC_000022.9:g.22438412G>C	NCBI36
NG_034223.1:g.6748C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_213720.3:c.312C>G MANE Select	NP_998885.1:p.Tyr104Ter
ENST00000484558.3:c.312C>G MANE Select	ENSP00000418428.3:p.Tyr104Ter
NM_001301339.1:c.333C>G	NP_001288268.1:p.Tyr111Ter
NM_001301339.2:c.333C>G	NP_001288268.1:p.Tyr111Ter
NM_213720.2:c.312C>G	NP_998885.1:p.Tyr104Ter
NR_125755.1:n.357C>G
NR_125755.2:n.357C>G
NR_125756.1:n.190C>G
NR_125756.2:n.190C>G
ENST00000401675.7:c.333C>G	ENSP00000384973.3:p.Tyr111Ter
ENST00000484558.2:c.312C>G	ENSP00000418428.2:p.Tyr104Ter
ENST00000517886.1:c.259C>G	ENSP00000429976.1:p.Arg87Gly
ENST00000520222.1:c.92C>G	ENSP00000430042.1:p.Thr31Arg
ENST00000523865.1:n.240C>G