Canonical Allele Identifier: CA338066933

Gene: CHD5

Linked Data

• MyVariant Identifiers: chr1:g.6172318C>A (hg19) ; chr1:g.6112258C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6112258C>A , CM000663.2:g.6112258C>A	GRCh38
NC_000001.10:g.6172318C>A , CM000663.1:g.6172318C>A	GRCh37
NC_000001.9:g.6094905C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262450.8:c.5022G>T MANE Select	ENSP00000262450.3:p.Glu1674Asp
ENST00000262450.7:c.5022G>T	ENSP00000262450.3:p.Glu1674Asp
ENST00000377999.5:c.1925G>T	ENSP00000367238.2:n.1925G>T
ENST00000462991.5:c.3275G>T
ENST00000496404.1:c.3740G>T	ENSP00000433676.1:n.3740G>T
NM_015557.2:c.5022G>T	NP_056372.1:p.Glu1674Asp
NM_015557.3:c.5022G>T MANE Select	NP_056372.1:p.Glu1674Asp