Canonical Allele Identifier: CA2397949031
Gene: CHCHD10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23767459G= , CM000684.2:g.23767459G= GRCh38
NC_000022.10:g.24109646G= , CM000684.1:g.24109646G= GRCh37
NC_000022.9:g.22439646G= NCBI36
NG_034223.1:g.5514C=

Transcript Alleles

HGVS Amino-acid Change
NM_213720.3:c.176C= MANE Select NP_998885.1:p.Ser59=
ENST00000484558.3:c.176C= MANE Select ENSP00000418428.3:p.Ser59=
NM_001301339.1:c.176C= NP_001288268.1:p.Ser59=
NM_001301339.2:c.176C= NP_001288268.1:p.Ser59=
NM_213720.2:c.176C= NP_998885.1:p.Ser59=
NR_125755.1:n.221C=
NR_125755.2:n.221C=
NR_125756.1:n.139+375C=
NR_125756.2:n.139+375C=
ENST00000401675.7:c.176C= ENSP00000384973.3:p.Ser59=
ENST00000484558.2:c.176C= ENSP00000418428.2:p.Ser59=
ENST00000517886.1:c.123C= ENSP00000429976.1:p.Leu41=
ENST00000520222.1:c.41+375C= ENSP00000430042.1:n.41+375C=