Canonical Allele Identifier: CA410916525

Gene: CHCHD10

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23767493T>A , CM000684.2:g.23767493T>A	GRCh38
NC_000022.10:g.24109680T>A , CM000684.1:g.24109680T>A	GRCh37
NC_000022.9:g.22439680T>A	NCBI36
NG_034223.1:g.5480A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_213720.3:c.142A>T MANE Select	NP_998885.1:p.Met48Leu
ENST00000484558.3:c.142A>T MANE Select	ENSP00000418428.3:p.Met48Leu
NM_001301339.1:c.142A>T	NP_001288268.1:p.Met48Leu
NM_001301339.2:c.142A>T	NP_001288268.1:p.Met48Leu
NM_213720.2:c.142A>T	NP_998885.1:p.Met48Leu
NR_125755.1:n.187A>T
NR_125755.2:n.187A>T
NR_125756.1:n.139+341A>T
NR_125756.2:n.139+341A>T
ENST00000401675.7:c.142A>T	ENSP00000384973.3:p.Met48Leu
ENST00000484558.2:c.142A>T	ENSP00000418428.2:p.Met48Leu
ENST00000517886.1:c.89A>T	ENSP00000429976.1:p.Asp30Val
ENST00000520222.1:c.41+341A>T	ENSP00000430042.1:n.41+341A>T