Canonical Allele Identifier: CA338066591
Gene: CHD5 HGNC NCBI

Linked Data

gnomAD v4: 1-6112180-T-G
MyVariant Identifiers: chr1:g.6172240T>G (hg19) chr1:g.6112180T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.6112180T>G , CM000663.2:g.6112180T>G GRCh38
NC_000001.10:g.6172240T>G , CM000663.1:g.6172240T>G GRCh37
NC_000001.9:g.6094827T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000262450.8:c.5100A>C MANE Select ENSP00000262450.3:p.Lys1700Asn
ENST00000262450.7:c.5100A>C ENSP00000262450.3:p.Lys1700Asn
ENST00000377999.5:c.2003A>C ENSP00000367238.2:n.2003A>C
ENST00000462991.5:c.3353A>C
ENST00000496404.1:c.3818A>C ENSP00000433676.1:n.3818A>C
NM_015557.2:c.5100A>C NP_056372.1:p.Lys1700Asn
NM_015557.3:c.5100A>C MANE Select NP_056372.1:p.Lys1700Asn
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