Canonical Allele Identifier: CA410915160

Gene: CHCHD10

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23766260C>G , CM000684.2:g.23766260C>G	GRCh38
NC_000022.10:g.24108447C>G , CM000684.1:g.24108447C>G	GRCh37
NC_000022.9:g.22438447C>G	NCBI36
NG_034223.1:g.6713G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_213720.3:c.277G>C MANE Select	NP_998885.1:p.Ala93Pro
ENST00000484558.3:c.277G>C MANE Select	ENSP00000418428.3:p.Ala93Pro
NM_001301339.1:c.298G>C	NP_001288268.1:p.Ala100Pro
NM_001301339.2:c.298G>C	NP_001288268.1:p.Ala100Pro
NM_213720.2:c.277G>C	NP_998885.1:p.Ala93Pro
NR_125755.1:n.322G>C
NR_125755.2:n.322G>C
NR_125756.1:n.155G>C
NR_125756.2:n.155G>C
ENST00000401675.7:c.298G>C	ENSP00000384973.3:p.Ala100Pro
ENST00000484558.2:c.277G>C	ENSP00000418428.2:p.Ala93Pro
ENST00000517886.1:c.224G>C	ENSP00000429976.1:p.Cys75Ser
ENST00000520222.1:c.57G>C	ENSP00000430042.1:p.Leu19=
ENST00000523865.1:n.205G>C