Canonical Allele Identifier: CA338066551
Gene: CHD5 HGNC NCBI

Linked Data

dbSNP Id: rs1444720831
gnomAD v3: 1-6112175-T-A
gnomAD v4: 1-6112175-T-A
MyVariant Identifiers: chr1:g.6172235T>A (hg19) chr1:g.6112175T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112175T>A , CM000663.2:g.6112175T>A GRCh38
NC_000001.10:g.6172235T>A , CM000663.1:g.6172235T>A GRCh37
NC_000001.9:g.6094822T>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.5105A>T MANE Select ENSP00000262450.3:p.Lys1702Met
ENST00000262450.7:c.5105A>T ENSP00000262450.3:p.Lys1702Met
ENST00000377999.5:c.2008A>T ENSP00000367238.2:n.2008A>T
ENST00000462991.5:c.3358A>T
ENST00000496404.1:c.3823A>T ENSP00000433676.1:n.3823A>T
NM_015557.2:c.5105A>T NP_056372.1:p.Lys1702Met
NM_015557.3:c.5105A>T MANE Select NP_056372.1:p.Lys1702Met
Search 100 bp 5'
Search 100 bp 3'