Canonical Allele Identifier: CA2397949118
Community Standard Title: NM_213720.3(CHCHD10):c.43C= (p.Arg15=)
Gene: CHCHD10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23767592G= , CM000684.2:g.23767592G= GRCh38
NC_000022.10:g.24109779G= , CM000684.1:g.24109779G= GRCh37
NC_000022.9:g.22439779G= NCBI36
NG_034223.1:g.5381C=

Transcript Alleles

HGVS Amino-acid Change
NM_213720.3:c.43C= MANE Select NP_998885.1:p.Arg15=
ENST00000484558.3:c.43C= MANE Select ENSP00000418428.3:p.Arg15=
NM_001301339.1:c.43C= NP_001288268.1:p.Arg15=
NM_001301339.2:c.43C= NP_001288268.1:p.Arg15=
NM_213720.2:c.43C= NP_998885.1:p.Arg15=
NR_125755.1:n.140-52C=
NR_125755.2:n.140-52C=
NR_125756.1:n.139+242C=
NR_125756.2:n.139+242C=
ENST00000401675.7:c.43C= ENSP00000384973.3:p.Arg15=
ENST00000484558.2:c.43C= ENSP00000418428.2:p.Arg15=
ENST00000517886.1:c.42-52C= ENSP00000429976.1:n.42-52C=
ENST00000520222.1:c.41+242C= ENSP00000430042.1:n.41+242C=