Canonical Allele Identifier: CA163486
Gene: CHCHD10 HGNC NCBI

Linked Data

ClinVar Variation Id: 140745
dbSNP Id: rs587777574

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000484558.3:c.176C>T MANE Select ENSP00000418428.3:p.Ser59Leu
ENST00000401675.7:c.176C>T ENSP00000384973.3:p.Ser59Leu
ENST00000484558.2:c.176C>T ENSP00000418428.2:p.Ser59Leu
ENST00000517886.1:c.123C>T ENSP00000429976.1:p.Leu41=
ENST00000520222.1:c.41+375C>T ENSP00000430042.1:n.41+375C>T
NM_001301339.1:c.176C>T NP_001288268.1:p.Ser59Leu
NM_213720.2:c.176C>T NP_998885.1:p.Ser59Leu
NR_125755.1:n.221C>T
NR_125756.1:n.139+375C>T
NM_001301339.2:c.176C>T NP_001288268.1:p.Ser59Leu
NM_213720.3:c.176C>T MANE Select NP_998885.1:p.Ser59Leu
NR_125755.2:n.221C>T
NR_125756.2:n.139+375C>T