Canonical Allele Identifier: CA1151337204

Gene: CHD5

Linked Data

• dbSNP Id: rs1666305776

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6112324G>A , CM000663.2:g.6112324G>A	GRCh38
NC_000001.10:g.6172384G>A , CM000663.1:g.6172384G>A	GRCh37
NC_000001.9:g.6094971G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262450.8:c.5003-47C>T MANE Select	ENSP00000262450.3:n.5003-47C>T
ENST00000262450.7:c.5003-47C>T	ENSP00000262450.3:n.5003-47C>T
ENST00000377999.5:c.1906-47C>T	ENSP00000367238.2:n.1906-47C>T
ENST00000462991.5:c.3256-47C>T
ENST00000496404.1:c.3721-47C>T	ENSP00000433676.1:n.3721-47C>T
NM_015557.2:c.5003-47C>T	NP_056372.1:n.5003-47C>T
NM_015557.3:c.5003-47C>T MANE Select	NP_056372.1:n.5003-47C>T