Canonical Allele Identifier: CA410915171

Gene: CHCHD10

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23766261A>T , CM000684.2:g.23766261A>T	GRCh38
NC_000022.10:g.24108448A>T , CM000684.1:g.24108448A>T	GRCh37
NC_000022.9:g.22438448A>T	NCBI36
NG_034223.1:g.6712T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_213720.3:c.276T>A MANE Select	NP_998885.1:p.Ala92=
ENST00000484558.3:c.276T>A MANE Select	ENSP00000418428.3:p.Ala92=
NM_001301339.1:c.297T>A	NP_001288268.1:p.Ala99=
NM_001301339.2:c.297T>A	NP_001288268.1:p.Ala99=
NM_213720.2:c.276T>A	NP_998885.1:p.Ala92=
NR_125755.1:n.321T>A
NR_125755.2:n.321T>A
NR_125756.1:n.154T>A
NR_125756.2:n.154T>A
ENST00000401675.7:c.297T>A	ENSP00000384973.3:p.Ala99=
ENST00000484558.2:c.276T>A	ENSP00000418428.2:p.Ala92=
ENST00000517886.1:c.223T>A	ENSP00000429976.1:p.Cys75Ser
ENST00000520222.1:c.56T>A	ENSP00000430042.1:p.Leu19Gln
ENST00000523865.1:n.204T>A