Canonical Allele Identifier: CA338066588
Gene: CHD5 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.5101T>A MANE Select ENSP00000262450.3:p.Phe1701Ile
ENST00000262450.7:c.5101T>A ENSP00000262450.3:p.Phe1701Ile
ENST00000377999.5:c.2004T>A ENSP00000367238.2:n.2004T>A
ENST00000462991.5:c.3354T>A
ENST00000496404.1:c.3819T>A ENSP00000433676.1:n.3819T>A
NM_015557.2:c.5101T>A NP_056372.1:p.Phe1701Ile
NM_015557.3:c.5101T>A MANE Select NP_056372.1:p.Phe1701Ile
Search 100 bp 5'
Search 100 bp 3'