Canonical Allele Identifier: CA10145293

Gene: CHCHD10

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23767420G>A , CM000684.2:g.23767420G>A	GRCh38
NC_000022.10:g.24109607G>A , CM000684.1:g.24109607G>A	GRCh37
NC_000022.9:g.22439607G>A	NCBI36
NG_034223.1:g.5553C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_213720.3:c.215C>T MANE Select	NP_998885.1:p.Ala72Val
ENST00000484558.3:c.215C>T MANE Select	ENSP00000418428.3:p.Ala72Val
NM_001301339.1:c.215C>T	NP_001288268.1:p.Ala72Val
NM_001301339.2:c.215C>T	NP_001288268.1:p.Ala72Val
NM_213720.2:c.215C>T	NP_998885.1:p.Ala72Val
NR_125755.1:n.260C>T
NR_125755.2:n.260C>T
NR_125756.1:n.139+414C>T
NR_125756.2:n.139+414C>T
ENST00000401675.7:c.215C>T	ENSP00000384973.3:p.Ala72Val
ENST00000484558.2:c.215C>T	ENSP00000418428.2:p.Ala72Val
ENST00000517886.1:c.162C>T	ENSP00000429976.1:p.Ser54=
ENST00000520222.1:c.41+414C>T	ENSP00000430042.1:n.41+414C>T