Canonical Allele Identifier: CA338081333
Gene: CHD5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6144023C>T , CM000663.2:g.6144023C>T GRCh38
NC_000001.10:g.6204083C>T , CM000663.1:g.6204083C>T GRCh37
NC_000001.9:g.6126670C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.1934+1G>A MANE Select ENSP00000262450.3:n.1934+1G>A
ENST00000262450.7:c.1934+1G>A ENSP00000262450.3:n.1934+1G>A
ENST00000462991.5:c.81+1G>A
ENST00000496404.1:c.1934+1G>A ENSP00000433676.1:n.1934+1G>A
NM_015557.2:c.1934+1G>A NP_056372.1:n.1934+1G>A
NM_015557.3:c.1934+1G>A MANE Select NP_056372.1:n.1934+1G>A