Canonical Allele Identifier: CA338066409
Gene: CHD5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6172205A>T (hg19) chr1:g.6112145A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112145A>T , CM000663.2:g.6112145A>T GRCh38
NC_000001.10:g.6172205A>T , CM000663.1:g.6172205A>T GRCh37
NC_000001.9:g.6094792A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000262450.8:c.5135T>A MANE Select ENSP00000262450.3:p.Phe1712Tyr
ENST00000262450.7:c.5135T>A ENSP00000262450.3:p.Phe1712Tyr
ENST00000377999.5:c.2038T>A ENSP00000367238.2:n.2038T>A
ENST00000462991.5:c.3388T>A
ENST00000496404.1:c.3853T>A ENSP00000433676.1:n.3853T>A
NM_015557.2:c.5135T>A NP_056372.1:p.Phe1712Tyr
NM_015557.3:c.5135T>A MANE Select NP_056372.1:p.Phe1712Tyr
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