Canonical Allele Identifier: CA10145255

Gene: CHCHD10

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23766180C>A , CM000684.2:g.23766180C>A	GRCh38
NC_000022.10:g.24108367C>A , CM000684.1:g.24108367C>A	GRCh37
NC_000022.9:g.22438367C>A	NCBI36
NG_034223.1:g.6793G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_213720.3:c.357G>T MANE Select	NP_998885.1:p.Leu119=
ENST00000484558.3:c.357G>T MANE Select	ENSP00000418428.3:p.Leu119=
NM_001301339.1:c.378G>T	NP_001288268.1:p.Leu126=
NM_001301339.2:c.378G>T	NP_001288268.1:p.Leu126=
NM_213720.2:c.357G>T	NP_998885.1:p.Leu119=
NR_125755.1:n.402G>T
NR_125755.2:n.402G>T
NR_125756.1:n.235G>T
NR_125756.2:n.235G>T
ENST00000401675.7:c.378G>T	ENSP00000384973.3:p.Leu126=
ENST00000484558.2:c.357G>T	ENSP00000418428.2:p.Leu119=
ENST00000517886.1:c.*4G>T	ENSP00000429976.1:n.*4G>T
ENST00000520222.1:c.137G>T	ENSP00000430042.1:p.Cys46Phe
ENST00000523865.1:n.285G>T