Canonical Allele Identifier: CA338066581
Gene: CHD5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6172239A>C (hg19) chr1:g.6112179A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112179A>C , CM000663.2:g.6112179A>C GRCh38
NC_000001.10:g.6172239A>C , CM000663.1:g.6172239A>C GRCh37
NC_000001.9:g.6094826A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.5101T>G MANE Select ENSP00000262450.3:p.Phe1701Val
ENST00000262450.7:c.5101T>G ENSP00000262450.3:p.Phe1701Val
ENST00000377999.5:c.2004T>G ENSP00000367238.2:n.2004T>G
ENST00000462991.5:c.3354T>G
ENST00000496404.1:c.3819T>G ENSP00000433676.1:n.3819T>G
NM_015557.2:c.5101T>G NP_056372.1:p.Phe1701Val
NM_015557.3:c.5101T>G MANE Select NP_056372.1:p.Phe1701Val
Search 100 bp 5'
Search 100 bp 3'