Canonical Allele Identifier: CA416018462
Gene: CHD5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6172237G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112177G>A , CM000663.2:g.6112177G>A GRCh38
NC_000001.10:g.6172237G>A , CM000663.1:g.6172237G>A GRCh37
NC_000001.9:g.6094824G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.5103C>T MANE Select ENSP00000262450.3:p.Phe1701=
ENST00000262450.7:c.5103C>T ENSP00000262450.3:p.Phe1701=
ENST00000377999.5:c.2006C>T ENSP00000367238.2:n.2006C>T
ENST00000462991.5:c.3356C>T
ENST00000496404.1:c.3821C>T ENSP00000433676.1:n.3821C>T
NM_015557.2:c.5103C>T NP_056372.1:p.Phe1701=
NM_015557.3:c.5103C>T MANE Select NP_056372.1:p.Phe1701=
Search 100 bp 5'
Search 100 bp 3'