Canonical Allele Identifier: CA416018477
Gene: CHD5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6172288A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112228A>C , CM000663.2:g.6112228A>C GRCh38
NC_000001.10:g.6172288A>C , CM000663.1:g.6172288A>C GRCh37
NC_000001.9:g.6094875A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.5052T>G MANE Select ENSP00000262450.3:p.Gly1684=
ENST00000262450.7:c.5052T>G ENSP00000262450.3:p.Gly1684=
ENST00000377999.5:c.1955T>G ENSP00000367238.2:n.1955T>G
ENST00000462991.5:c.3305T>G
ENST00000496404.1:c.3770T>G ENSP00000433676.1:n.3770T>G
NM_015557.2:c.5052T>G NP_056372.1:p.Gly1684=
NM_015557.3:c.5052T>G MANE Select NP_056372.1:p.Gly1684=