Canonical Allele Identifier: CA2642926882

Gene: CHD5

Linked Data

• gnomAD v4: 1-6112112-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6112112C>A , CM000663.2:g.6112112C>A	GRCh38
NC_000001.10:g.6172172C>A , CM000663.1:g.6172172C>A	GRCh37
NC_000001.9:g.6094759C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262450.8:c.5140+28G>T MANE Select	ENSP00000262450.3:n.5140+28G>T
ENST00000262450.7:c.5140+28G>T	ENSP00000262450.3:n.5140+28G>T
ENST00000377999.5:c.2043+28G>T	ENSP00000367238.2:n.2043+28G>T
ENST00000462991.5:c.3393+28G>T
ENST00000496404.1:c.3858+28G>T	ENSP00000433676.1:n.3858+28G>T
NM_015557.2:c.5140+28G>T	NP_056372.1:n.5140+28G>T
NM_015557.3:c.5140+28G>T MANE Select	NP_056372.1:n.5140+28G>T