Canonical Allele Identifier: CA338066585
Gene: CHD5 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.6172239A>G (hg19) chr1:g.6112179A>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.5101T>C MANE Select ENSP00000262450.3:p.Phe1701Leu
ENST00000262450.7:c.5101T>C ENSP00000262450.3:p.Phe1701Leu
ENST00000377999.5:c.2004T>C ENSP00000367238.2:n.2004T>C
ENST00000462991.5:c.3354T>C
ENST00000496404.1:c.3819T>C ENSP00000433676.1:n.3819T>C
NM_015557.2:c.5101T>C NP_056372.1:p.Phe1701Leu
NM_015557.3:c.5101T>C MANE Select NP_056372.1:p.Phe1701Leu
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