Canonical Allele Identifier: CA513745726

Gene: CHCHD10

Linked Data

• gnomAD v4: 22-23767536-G-A
• MyVariant Identifiers: chr22:g.24109723G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23767536G>A , CM000684.2:g.23767536G>A	GRCh38
NC_000022.10:g.24109723G>A , CM000684.1:g.24109723G>A	GRCh37
NC_000022.9:g.22439723G>A	NCBI36
NG_034223.1:g.5437C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000484558.3:c.99C>T MANE Select	ENSP00000418428.3:p.Ala33=
ENST00000401675.7:c.99C>T	ENSP00000384973.3:p.Ala33=
ENST00000484558.2:c.99C>T	ENSP00000418428.2:p.Ala33=
ENST00000517886.1:c.46C>T	ENSP00000429976.1:p.Pro16Ser
ENST00000520222.1:c.41+298C>T	ENSP00000430042.1:n.41+298C>T
NM_001301339.1:c.99C>T	NP_001288268.1:p.Ala33=
NM_213720.2:c.99C>T	NP_998885.1:p.Ala33=
NR_125755.1:n.144C>T
NR_125756.1:n.139+298C>T
NM_001301339.2:c.99C>T	NP_001288268.1:p.Ala33=
NM_213720.3:c.99C>T MANE Select	NP_998885.1:p.Ala33=
NR_125755.2:n.144C>T
NR_125756.2:n.139+298C>T