Canonical Allele Identifier: CA555947

Gene: CHD5

Linked Data

• dbSNP Id: rs542974165
• ExAC: 1:6172356 A / G
• gnomAD v2: 1-6172356-A-G
• gnomAD v3: 1-6112296-A-G
• gnomAD v4: 1-6112296-A-G
• MyVariant Identifiers: chr1:g.6172356A>G (hg19) ; chr1:g.6112296A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.6112296A>G , CM000663.2:g.6112296A>G	GRCh38
NC_000001.10:g.6172356A>G , CM000663.1:g.6172356A>G	GRCh37
NC_000001.9:g.6094943A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262450.8:c.5003-19T>C MANE Select	ENSP00000262450.3:n.5003-19T>C
ENST00000262450.7:c.5003-19T>C	ENSP00000262450.3:n.5003-19T>C
ENST00000377999.5:c.1906-19T>C	ENSP00000367238.2:n.1906-19T>C
ENST00000462991.5:c.3256-19T>C
ENST00000496404.1:c.3721-19T>C	ENSP00000433676.1:n.3721-19T>C
NM_015557.2:c.5003-19T>C	NP_056372.1:n.5003-19T>C
NM_015557.3:c.5003-19T>C MANE Select	NP_056372.1:n.5003-19T>C