Canonical Allele Identifier: CA555919

Gene: CHD5

Linked Data

• dbSNP Id: rs763927615
• ExAC: 1:6172255 C / T
• gnomAD v2: 1-6172255-C-T
• gnomAD v4: 1-6112195-C-T
• MyVariant Identifiers: chr1:g.6172255C>T (hg19) ; chr1:g.6112195C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6112195C>T , CM000663.2:g.6112195C>T	GRCh38
NC_000001.10:g.6172255C>T , CM000663.1:g.6172255C>T	GRCh37
NC_000001.9:g.6094842C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262450.8:c.5085G>A MANE Select	ENSP00000262450.3:p.Glu1695=
ENST00000262450.7:c.5085G>A	ENSP00000262450.3:p.Glu1695=
ENST00000377999.5:c.1988G>A	ENSP00000367238.2:n.1988G>A
ENST00000462991.5:c.3338G>A
ENST00000496404.1:c.3803G>A	ENSP00000433676.1:n.3803G>A
NM_015557.2:c.5085G>A	NP_056372.1:p.Glu1695=
NM_015557.3:c.5085G>A MANE Select	NP_056372.1:p.Glu1695=