Canonical Allele Identifier: CA555918
Gene: CHD5 HGNC NCBI

Linked Data

dbSNP Id: rs758348806
ExAC: 1:6172252 G / A
gnomAD v2: 1-6172252-G-A
gnomAD v4: 1-6112192-G-A
MyVariant Identifiers: chr1:g.6172252G>A (hg19) chr1:g.6112192G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112192G>A , CM000663.2:g.6112192G>A GRCh38
NC_000001.10:g.6172252G>A , CM000663.1:g.6172252G>A GRCh37
NC_000001.9:g.6094839G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.5088C>T MANE Select ENSP00000262450.3:p.Asp1696=
ENST00000262450.7:c.5088C>T ENSP00000262450.3:p.Asp1696=
ENST00000377999.5:c.1991C>T ENSP00000367238.2:n.1991C>T
ENST00000462991.5:c.3341C>T
ENST00000496404.1:c.3806C>T ENSP00000433676.1:n.3806C>T
NM_015557.2:c.5088C>T NP_056372.1:p.Asp1696=
NM_015557.3:c.5088C>T MANE Select NP_056372.1:p.Asp1696=
Search 100 bp 5'
Search 100 bp 3'