Canonical Allele Identifier: CA14993559
Community Standard Title: NM_213720.3(CHCHD10):c.262-239C>T
Gene: CHCHD10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23766514G>A , CM000684.2:g.23766514G>A GRCh38
NC_000022.10:g.24108701G>A , CM000684.1:g.24108701G>A GRCh37
NC_000022.9:g.22438701G>A NCBI36
NG_034223.1:g.6459C>T

Transcript Alleles

HGVS Amino-acid Change
NM_213720.3:c.262-239C>T MANE Select NP_998885.1:n.262-239C>T
ENST00000484558.3:c.262-239C>T MANE Select ENSP00000418428.3:n.262-239C>T
NM_001301339.1:c.262-218C>T NP_001288268.1:n.262-218C>T
NM_001301339.2:c.262-218C>T NP_001288268.1:n.262-218C>T
NM_213720.2:c.262-239C>T NP_998885.1:n.262-239C>T
NR_125755.1:n.307-239C>T
NR_125755.2:n.307-239C>T
NR_125756.1:n.140-239C>T
NR_125756.2:n.140-239C>T
ENST00000401675.7:c.262-218C>T ENSP00000384973.3:n.262-218C>T
ENST00000484558.2:c.262-239C>T ENSP00000418428.2:n.262-239C>T
ENST00000517886.1:c.209-239C>T ENSP00000429976.1:n.209-239C>T
ENST00000520222.1:c.42-239C>T ENSP00000430042.1:n.42-239C>T