Canonical Allele Identifier: CA416018464
Gene: CHD5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6172243C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112183C>A , CM000663.2:g.6112183C>A GRCh38
NC_000001.10:g.6172243C>A , CM000663.1:g.6172243C>A GRCh37
NC_000001.9:g.6094830C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.5097G>T MANE Select ENSP00000262450.3:p.Gly1699=
ENST00000262450.7:c.5097G>T ENSP00000262450.3:p.Gly1699=
ENST00000377999.5:c.2000G>T ENSP00000367238.2:n.2000G>T
ENST00000462991.5:c.3350G>T
ENST00000496404.1:c.3815G>T ENSP00000433676.1:n.3815G>T
NM_015557.2:c.5097G>T NP_056372.1:p.Gly1699=
NM_015557.3:c.5097G>T MANE Select NP_056372.1:p.Gly1699=