Canonical Allele Identifier: CA338066904
Gene: CHD5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112252C>G , CM000663.2:g.6112252C>G GRCh38
NC_000001.10:g.6172312C>G , CM000663.1:g.6172312C>G GRCh37
NC_000001.9:g.6094899C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.5028G>C MANE Select ENSP00000262450.3:p.Glu1676Asp
ENST00000262450.7:c.5028G>C ENSP00000262450.3:p.Glu1676Asp
ENST00000377999.5:c.1931G>C ENSP00000367238.2:n.1931G>C
ENST00000462991.5:c.3281G>C
ENST00000496404.1:c.3746G>C ENSP00000433676.1:n.3746G>C
NM_015557.2:c.5028G>C NP_056372.1:p.Glu1676Asp
NM_015557.3:c.5028G>C MANE Select NP_056372.1:p.Glu1676Asp