Canonical Allele Identifier: CA16596681
Community Standard Title: NM_213720.3(CHCHD10):c.262-294A>G
Gene: CHCHD10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23766569T>C , CM000684.2:g.23766569T>C GRCh38
NC_000022.10:g.24108756T>C , CM000684.1:g.24108756T>C GRCh37
NC_000022.9:g.22438756T>C NCBI36
NG_034223.1:g.6404A>G

Transcript Alleles

HGVS Amino-acid Change
NM_213720.3:c.262-294A>G MANE Select NP_998885.1:n.262-294A>G
ENST00000484558.3:c.262-294A>G MANE Select ENSP00000418428.3:n.262-294A>G
NM_001301339.1:c.262-273A>G NP_001288268.1:n.262-273A>G
NM_001301339.2:c.262-273A>G NP_001288268.1:n.262-273A>G
NM_213720.2:c.262-294A>G NP_998885.1:n.262-294A>G
NR_125755.1:n.307-294A>G
NR_125755.2:n.307-294A>G
NR_125756.1:n.140-294A>G
NR_125756.2:n.140-294A>G
ENST00000401675.7:c.262-273A>G ENSP00000384973.3:n.262-273A>G
ENST00000484558.2:c.262-294A>G ENSP00000418428.2:n.262-294A>G
ENST00000517886.1:c.209-294A>G ENSP00000429976.1:n.209-294A>G
ENST00000520222.1:c.42-294A>G ENSP00000430042.1:n.42-294A>G